Genomics England

Paediatric disorders (Version: )

There is a more recent signed-off version of this panel

Relevant disorders: Acutely unwell children with a likely monogenic disorder, Congenital malformation and dysmorphism syndromes - microarray and sequencing, Congenital malformation and dysmorphism syndromes, R14, R27

This panel contains these 11 panels:

DDG2P
Intellectual disability
Inborn errors of metabolism
Skeletal dysplasia
Paediatric disorders - additional genes
Clefting
Neurological ciliopathies
Renal ciliopathies
Ophthalmological ciliopathies
Limb disorders
Skeletal ciliopathies

Signed off date: 30 Nov 2022

Panel types: GMS Rare Disease Virtual, Super Panel, GMS signed-off

See this panel in PanelApp

2295 unique green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	AAAS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AAAS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AARS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	AARS2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AASS Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AASS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABAT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABAT Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCA1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCA2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCB11 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCB11 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCB4 Inborn errors of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ABCB7 Inborn errors of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ABCB7 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Other	N/A
Green	ABCC6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCC9 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ABCC9 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ABCC9 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	watchlist_moi
Green	ABCD1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	gene-therapy-trial
Green	ABCD1 Inborn errors of metabolism	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ABCD1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ABCD4 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCD4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCG5 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCG8 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABHD12 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABHD16A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABHD5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABHD5 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABHD5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABL1 Paediatric disorders - additional genes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	missense
Green	ACAD8 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACAD9 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACAD9 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACAD9 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADM Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADM DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADM Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADS DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	ACADS Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	ACADSB Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADVL DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADVL Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACAN Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ACAN DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ACAT1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACAT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACE Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACO2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	Q2_22_MOI
Green	ACO2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	Q2_22_MOI
Green	ACOX1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACOX1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACOX1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	watchlist_moi
Green	ACP5 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACP5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACSF3 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACSL4 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	Skewed X-inactivation
Green	ACTA2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ACTB Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ACTB Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ACTB DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	watchlist
Green	ACTC1 Paediatric disorders - additional genes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ACTG1 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ACTG1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ACTG1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ACTG2 Paediatric disorders - additional genes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ACTL6A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	ACTL6B Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ACTL6B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	watchlist
Green	ACVR1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ACVR2B Paediatric disorders - additional genes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ACY1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACY1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACY1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADA Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAM22 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAMTS10 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAMTS17 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAMTSL2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAR DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ADAR Inborn errors of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ADAR Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ADARB1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAT3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADD3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADGRG1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADGRG1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADGRG6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADK Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADNP Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ADNP DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ADSL Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADSL DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	ADSL Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AFF2 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Other	nucleotide-repeat-expansion
Green	AFF2 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	AFF4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	AFF4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	AFG3L2 Inborn errors of metabolism	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	AGA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGA Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGA Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGK Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGK DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGL DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGL Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGO1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	AGO2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	AGPS DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	AGPS Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGPS Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGT Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGTR1 Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGXT DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGXT Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AHCY Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	AHCY Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	AHDC1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	AHDC1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	AHI1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AHI1 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AHI1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AHI1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AHI1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AIFM1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	AIFM1 Inborn errors of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	AIMP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AIPL1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AIRE DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AK2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AKR1D1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AKR1D1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AKT1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	mosaicism
Green	AKT3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	mosaicism
Green	ALAD DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	ALAD Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALAS2 Inborn errors of metabolism	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ALDH18A1 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH18A1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	Q3_21_MOI
Green	ALDH18A1 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH1A3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH3A2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH3A2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH3A2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH4A1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH4A1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH4A1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH5A1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH5A1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH5A1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH6A1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH7A1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH7A1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH7A1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDOA DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	ALDOA Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDOB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDOB Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG11 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG11 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG12 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG12 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG12 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG12 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG13 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ALG14 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG3 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG6 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG8 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG9 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG9 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG9 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALMS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALMS1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALMS1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALMS1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALPL Inborn errors of metabolism	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	ALPL DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	ALPL Skeletal dysplasia	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	ALS2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALX1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALX1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALX3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALX3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALX4 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ALX4 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	AMACR Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AMER1 Skeletal dysplasia	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	AMER1 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	AMER1 Clefting	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	AMER1 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	AMN Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AMPD2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AMPD2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AMT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AMT Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AMT DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANAPC1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANK2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ANKH Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ANKH DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ANKRD11 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ANKRD11 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ANKRD11 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ANKRD11 Clefting	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ANKRD17 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ANKS6 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANO10 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANO5 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	Loss-of-function variants DO NOT cause this phenotype	Q1_22_MOI
Green	ANO5 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	watchlist
Green	ANOS1 Paediatric disorders - additional genes	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ANTXR1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANTXR2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP1G1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	AP1S1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP1S2 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	Q4_21_MOI
Green	AP1S2 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	AP2M1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense
Green	AP3B1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP3B2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP4B1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP4E1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP4E1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP4M1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP4S1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	APC2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	APOA1 Inborn errors of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	APOA5 Inborn errors of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	Q3_21_MOI
Green	APOB Inborn errors of metabolism	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	Q4_21_MOI
Green	APOC2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	APOE Inborn errors of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	APOPT1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	APOPT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	APOPT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	APRT Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	APTX Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	APTX DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AR DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	Q3_22_rating, Q3_22_expert_review
Green	ARCN1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ARCN1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARF1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARFGEF1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARFGEF2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARG1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARG1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARG1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARHGAP29 Clefting	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	ARHGAP31 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ARHGAP31 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARHGAP31 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARHGEF9 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	Q3_21_MOI
Green	ARID1A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARID1A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ARID1B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ARID1B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARID2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ARL13B Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL13B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL13B Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL13B Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL6 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL6 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL6 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL6 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARMC4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ARMC9 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARMC9 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARMC9 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARMC9 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSA Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSB Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSB Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSE Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	new-gene-name
Green	ARSE Limb disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	new-gene-name
Green	ARSE Inborn errors of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	new-gene-name
Green	ARSE DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	new-gene-name
Green	ARSE Skeletal dysplasia	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	new-gene-name
Green	ARV1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARX Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	nucleotide-repeat-expansion
Green	ARX DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ASAH1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASAH1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASAH1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASCC1 Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASH1L Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ASL Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASL DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASL Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASNS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASPA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASPA Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASPA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASPM DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASPM Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASS1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASS1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASXL1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ASXL1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ASXL1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ASXL1 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ASXL1 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ASXL2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ASXL2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ASXL3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ATAD1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	ATAD3A Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ATAD3A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATAD3A Inborn errors of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ATIC DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATIC Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATIC Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATM Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATM DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATN1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	ATP13A2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP13A2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP13A2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP1A1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATP1A2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATP1A3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ATP1A3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ATP5D Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ATP6AP1 Inborn errors of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ATP6AP2 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ATP6V0A2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP6V0A2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP6V0A2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP6V1A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATP6V1B1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP6V1B2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ATP7A Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ATP7A DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ATP7A Inborn errors of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ATP7A Skeletal dysplasia	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ATP7B Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP8A2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP8B1 Inborn errors of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ATP8B1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP9A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	ATPAF2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATR Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATRX Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ATRX DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	AUH DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AUH Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AUH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AUTS2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	AUTS2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	B3GALNT2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GALNT2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GALT6 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GALT6 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GALT6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GAT3 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GAT3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GLCT Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GLCT Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GLCT Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GLCT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GALNT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GALNT1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GALT1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GALT7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GALT7 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GALT7 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GALT7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B9D2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B9D2 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B9D2 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B9D2 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BAAT Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS1 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS10 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS10 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS10 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS10 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS10 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS10 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS12 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS12 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS12 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS12 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS12 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS12 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS2 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS2 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS2 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS4 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS4 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS4 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS4 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS5 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS5 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS5 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS5 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS7 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS7 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS7 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS7 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS9 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS9 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS9 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS9 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS9 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS9 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCAP31 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	BCAP31 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	BCAS3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCAT2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	BCKDHA Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCKDHA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCKDHA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCKDHB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCKDHB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCKDHB Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCKDK Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCKDK Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCL11A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	BCL11A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BCL11B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BCOR Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	BCOR Clefting	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	BCOR DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	BCS1L Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCS1L DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCS1L Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BFSP2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	BGN DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	watchlist
Green	BHLHA9 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BHLHA9 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BHLHA9 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	BICD2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	BICRA Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	BIN1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BLM DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BLM Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BMP1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BMP2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	cnv
Green	BMP2 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	cnv
Green	BMP2 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BMP4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BMP4 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BMP4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BMPER DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BMPER Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BMPR1B Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	BMPR1B Limb disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	BMPR1B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BNC2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BOLA3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BOLA3 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BPTF Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	BRAF Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	BRAF DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	BRAT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRCA1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRCA2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRCA2 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRD4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	BRF1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRIP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRIP1 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRPF1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BRPF1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BRSK2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	BRWD3 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	BRWD3 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	BSCL2 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	Q3_21_MOI
Green	BSND DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BTD DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BTD Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BTD Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BUB1B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BUB1B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C11orf70 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name, gene-checked
Green	C12orf4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C12orf57 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C12orf65 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C12orf65 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C12orf65 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C19orf12 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	Q2_22_MOI
Green	C19orf70 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C1QBP Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C21orf2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C21orf2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C21orf2 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C21orf2 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C2CD3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C2CD3 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C2CD3 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C2CD3 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C2CD3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C2orf71 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C4orf26 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C5orf42 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C5orf42 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C5orf42 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C5orf42 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C5orf42 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C5orf42 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C8orf37 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C8orf37 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	CA2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CA2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CA2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CA5A Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CA8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CA8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA1A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	Q3_22_MOI
Green	CACNA1B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA1C Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CACNA1C DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CACNA1D Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA1E Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CACNA1E DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	watchlist
Green	CACNA1G Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	CACNA1I Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	CAD Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CAD DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CAMK2A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	watchlist_moi
Green	CAMK2B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CAMK4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	gene-checked
Green	CAMTA1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CANT1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CAPN15 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CARS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	CARS2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CASK DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	CASK Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	CASR Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CAT Inborn errors of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CBL DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CBL Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CBS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CBS Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CBS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CC2D1A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CC2D1A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CC2D2A Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CC2D2A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CC2D2A Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CC2D2A Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CC2D2A Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CC2D2A Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CC2D2A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCBE1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCBE1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC103 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC114 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	CCDC115 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC115 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC22 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	CCDC39 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC40 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC47 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	CCDC65 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC8 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC88C Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCND2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CCND2 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	CCND2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CCNO DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDC42 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CDC45 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDC45 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDC6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDC6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDH1 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CDH1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CDH11 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDH2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CDH2 Paediatric disorders - additional genes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CDH23 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDH3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDH3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDK10 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDK13 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CDK13 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CDK19 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CDK5RAP2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDK8 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CDK8 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CDKL5 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	CDKL5 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	CDKN1C Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	N/A	N/A
Green	CDKN1C Clefting	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	N/A	N/A
Green	CDKN1C DDG2P	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	N/A	N/A
Green	CDON DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CDON Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CDT1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDX1 Paediatric disorders - additional genes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	CENPF Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CENPF Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CENPF Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CENPF Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CENPF Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CENPJ DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CENPJ Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP104 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP104 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP104 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP104 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP104 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP120 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP120 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP120 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP135 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP152 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP152 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP164 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP164 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP290 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP290 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP290 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP290 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP290 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP290 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP41 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP41 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP41 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP41 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP41 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP55 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP55 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP57 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP57 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP83 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP83 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP83 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP85L Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	CFAP53 Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CFC1 Paediatric disorders - additional genes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHAMP1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHAMP1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHCHD10 Inborn errors of metabolism	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHD2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHD2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHD3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHD4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHD4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHD5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHD7 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHD7 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHD7 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHD8 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHKB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHKB Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHM DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	CHMP1A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHRDL1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	CHRNA3 Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHRNA4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CHRNG DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHRNG Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHST14 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHST14 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHST14 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHST14 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHST3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHST3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHST3 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHST6 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHSY1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHSY1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHSY1 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHSY1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHUK DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CIB2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CIC Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CISD2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CISD2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CIT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CKAP2L Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CKAP2L Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CKAP2L DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLCN3 Intellectual disability	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Other	N/A
Green	CLCN4 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	CLCN5 Skeletal dysplasia	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	CLCN7 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CLCN7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLDN16 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLDN19 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	CLDN19 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN3 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN5 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN6 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN8 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	CLPB Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CLPB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLPB Inborn errors of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CLPP Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLTC Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CNKSR2 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	CNNM2 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CNNM2 Inborn errors of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CNOT1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CNOT2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CNOT3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CNOT3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CNTNAP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CNTNAP2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CNTNAP2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COA6 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COA7 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COASY Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COASY DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG4 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	COG4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	watchlist
Green	COG4 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG5 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	Q3_21_MOI
Green	COG6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG6 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG7 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG8 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL10A1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COL10A1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	COL11A1 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL11A1 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL11A1 Clefting	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL11A2 Clefting	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL11A2 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	COL11A2 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL18A1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL1A1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	COL1A1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	COL1A2 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	Q2_22_MOI, Q2_22_expert_review
Green	COL2A1 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL2A1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	watchlist
Green	COL2A1 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	COL2A1 Clefting	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL4A1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	COL4A1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COL4A2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COL4A2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	COL4A3 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL4A3BP DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	new-gene-name
Green	COL4A3BP Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	new-gene-name
Green	COL4A4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL6A1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	COL6A3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL9A1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	Q4_21_MOI
Green	COL9A1 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL9A1 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL9A2 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL9A2 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL9A3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	watchlist
Green	COL9A3 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COLEC10 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COLEC11 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COLEC11 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COLEC11 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COLEC11 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COMP DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	watchlist
Green	COMP Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	nucleotide-repeat-expansion
Green	COPB2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	watchlist_moi, Q1_22_MOI
Green	COPB2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COQ2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ4 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ6 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ7 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ8A Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ8A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ8A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ8B Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ9 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ9 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX10 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX10 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	COX10 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX14 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX15 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX15 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX15 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX20 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX6A1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX6B1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX6B1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX7B DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	COX7B Inborn errors of metabolism	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	CP Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPE Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPOX Inborn errors of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CPS1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPS1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPT1A Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPT2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	Q1_22_MOI
Green	CRADD Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CRB1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CRB2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CRB2 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CRB2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CRB2 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CREB3L1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CREBBP DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CREBBP Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CREBBP Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CRTAP Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CRX DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CRYAA DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CRYBA1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CRYBA4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	watchlist
Green	CRYBB1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CRYBB2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CRYBB3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	CRYGC DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	watchlist
Green	CRYGD DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	watchlist
Green	CSDE1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	CSF1R DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSGALNACT1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSGALNACT1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSNK1G1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	CSNK2A1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CSNK2A1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CSNK2B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CSPP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSPP1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSPP1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSPP1 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSPP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSPP1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSTB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	nucleotide-repeat-expansion
Green	CSTB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	Other	nucleotide-repeat-expansion
Green	CTBP1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	missense
Green	CTC1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTCF Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CTCF DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CTCF Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CTDP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTDP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTH Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTNNA2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTNNB1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CTNNB1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CTNND1 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CTNND1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CTNS Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTNS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSA Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSA Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSC Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSC Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSD DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSD Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSD Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSK DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSK Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSK Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTU2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CUBN Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CUL4B DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	CUL4B Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	CUL7 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CUL7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CUX1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CUX2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	Q3_21_NHS_review
Green	CWC27 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CWC27 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CWF19L1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CXorf56 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	new-gene-name, Skewed X-inactivation, gene-checked
Green	CYB5R3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYC1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYC1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYC1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	CYFIP2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CYP1B1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	CYP27A1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP27B1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP2R1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP2U1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP7B1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	D2HGDH Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	D2HGDH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DAG1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DAG1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	DARS Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	DARS DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	new-gene-name
Green	DARS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	DARS2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DARS2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DARS2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DBH Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DBT DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DBT Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DBT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCAF17 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCHS1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCHS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCPS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCX Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	DCX DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	DCXR Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDB1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DDB2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDC DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDC Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDC Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDHD1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDHD2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDHD2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDOST DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDR2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	DDR2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX11 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX11 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX3X Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	loss-of-function (truncating variants and curated list of variants)	N/A
Green	DDX3X DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	DDX59 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX59 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX59 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX59 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX59 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX6 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DEAF1 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DEAF1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	watchlist
Green	DEGS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DEGS1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DEPDC5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DEPDC5 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DGUOK Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR24 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR24 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR24 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR24 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHDDS Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	Q4_21_MOI
Green	DHFR Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHFR Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHFR DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	DHODH DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHODH Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHODH Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHODH Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHPS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHTKD1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHTKD1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHX30 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DHX37 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DIAPH1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DIS3L2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DIS3L2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	deletions, non-coding-known-pathogenic
Green	DIS3L2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DKC1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	DKC1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	DLAT Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DLAT DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DLD Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DLD DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DLD Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DLG3 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	DLG3 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	DLG4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	microduplication
Green	DLG5 Renal ciliopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	gene-checked
Green	DLL1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DLL3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DLL3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DLL4 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DLL4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DLL4 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DLL4 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DLX3 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DLX5 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DLX5 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	Q3_21_MOI
Green	DMD DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	Skewed X-inactivation
Green	DMD Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	gene-therapy-trial, Skewed X-inactivation
Green	DMP1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DMP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DMPK DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	nucleotide-repeat-expansion, currently-ngs-unreportable, Q3_21_MOI, Q3_21_rating
Green	DMPK_CTG Inborn errors of metabolism STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	DMPK_CTG Intellectual disability STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	DMXL2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNA2 Inborn errors of metabolism	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DNAAF3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAAF4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAH9 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJC12 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJC12 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJC19 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJC19 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJC5 Inborn errors of metabolism	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DNM1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DNM1L Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	DNM1L Inborn errors of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DNM2 Inborn errors of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DNMT3A Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DNMT3A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	watchlist
Green	DNMT3A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	DNMT3B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNMT3B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOCK3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOCK6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOCK6 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOCK6 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOCK6 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOCK7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOCK8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	Q3_22_rating, Q3_22_MOI, Q3_22_NHS_review, Q3_22_expert_review
Green	DOCK8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOLK DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	DOLK Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOLK Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPAGT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPAGT1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPAGT1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPAGT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPF2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	dominant-negative
Green	DPH1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM3 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPP6 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	deletions
Green	DPYD Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	pharmacogenetics
Green	DPYD Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPYS Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPYS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPYSL5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DSPP DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DSTYK DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	watchlist
Green	DVL1 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DVL1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DVL1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	DVL1 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	DVL3 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DVL3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	DVL3 Clefting	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DVL3 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DYM Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYM Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYM DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYM Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYNC1H1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	DYNC1H1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DYNC2H1 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYNC2H1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYNC2H1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYNC2H1 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYNC2H1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYNC2LI1 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYNC2LI1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYNC2LI1 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYRK1A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DYRK1A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EARS2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EARS2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EBF3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EBF3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EBP Limb disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	EBP DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	EBP Skeletal dysplasia	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	EBP Clefting	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	EBP Inborn errors of metabolism	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	EBP Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ECEL1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ECHS1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EDA DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	EDAR DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	EDNRA DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	EDNRA Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EDNRB DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	Q4_21_MOI
Green	EED Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EED Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EEF1A2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EFNB1 Clefting	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	EFNB1 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	EFTUD2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EFTUD2 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EFTUD2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EFTUD2 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EFTUD2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EGR2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EHBP1L1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	EHMT1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EHMT1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EIF2AK2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	missense
Green	EIF2AK3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2AK3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2AK3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2S3 Clefting	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	EIF2S3 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	EIF3F Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF4A3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	nucleotide-repeat-expansion
Green	EIF4A3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	EIF4A3 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF5A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ELAC2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ELAC2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ELAC2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ELN DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ELOVL4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ELOVL4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ELP2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EMC1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	Q3_22_MOI
Green	EMC10 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EML1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EMX2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ENO3 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ENPP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ENPP1 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	EOGT DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EOGT Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EOGT Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EOGT Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EOGT Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EP300 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EP300 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EPG5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPG5 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPG5 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPG5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPM2A Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERBB4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ERCC1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC4 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	watchlist
Green	ERCC5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC6L2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC6L2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERF Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ERF DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ERLIN2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ESCO2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ESCO2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ESCO2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ESCO2 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ESCO2 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFA Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFB Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFDH DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFDH Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFDH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETHE1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETHE1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETHE1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EVC DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EVC Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EVC Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EVC Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EVC2 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EVC2 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EVC2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EVC2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXOSC3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	EXOSC3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXT1 Inborn errors of metabolism	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EXT1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EXT1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EXT2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EXT2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EXT2 Inborn errors of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	EXT2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXTL3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXTL3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EYA1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	watchlist
Green	EYA1 Clefting	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EZH2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	EZH2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EZH2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FA2H Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAH Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAH DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAM111A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	FAM111A Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FAM111A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FAM126A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	FAM126A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	FAM161A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAM20A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAM20C Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAM20C DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAM20C Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAM20C Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAM46A Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	FAM50A Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	FAM58A Skeletal dysplasia	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	new-gene-name
Green	FAM58A DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	new-gene-name
Green	FAM58A Limb disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	new-gene-name
Green	FANCA Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCB DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FANCB Limb disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	FANCC DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCC Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCD2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCD2 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCE Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCE DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCF DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCF Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCG DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCG Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCI Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCI DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCL Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAR1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAR1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	Q2_21_expert_review, Q2_21_MOI, to_be_confirmed_NHSE
Green	FARS2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FARS2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FARS2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FARSA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FASTKD2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAT4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAT4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBN1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	watchlist
Green	FBN1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FBN2 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FBN2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	FBP1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBRSL1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	FBXL3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBXL4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBXL4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBXL4 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBXO11 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	watchlist
Green	FBXO11 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FBXO31 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FBXW11 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FDX2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FDXR Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FECH Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FERMT3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FGD1 Limb disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FGD1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FGD1 Clefting	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FGD1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FGF10 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FGF10 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FGF10 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FGF12 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	FGF12 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	FGF16 Skeletal dysplasia	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FGF16 Limb disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FGF23 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FGF3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FGFR1 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FGFR1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FGFR1 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FGFR1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	mosaicism
Green	FGFR2 Inborn errors of metabolism	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FGFR2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FGFR2 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FGFR2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	FGFR2 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FGFR3 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FGFR3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	FGFR3 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FH DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FH Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FHL1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FIG4 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FIG4 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FIG4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKBP10 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKBP14 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKRP DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKRP Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKRP Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKTN Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKTN DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKTN Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FLAD1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FLAD1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FLNA Skeletal dysplasia	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	FLNA Clefting	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	FLNA DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	mosaicism
Green	FLNA Limb disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	FLNA Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	FLNB Clefting	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FLNB DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FLNB Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FLT4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	FLVCR1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	FLVCR2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FLVCR2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FMN2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FMO3 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FMR1 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	FMR1 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Other	nucleotide-repeat-expansion
Green	FMR1_CGG Intellectual disability STR	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	STR
Green	FN1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	FOLR1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FOLR1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FOLR1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FOXC1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FOXC2 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FOXC2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FOXE1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	FOXE3 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FOXF1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FOXG1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FOXG1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FOXN1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FOXP1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FOXP1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FOXP2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FOXP3 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FOXRED1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FOXRED1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FOXRED1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FRAS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FRAS1 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FRAS1 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FREM1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FREM2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FREM2 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FRMD7 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FRMPD4 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	FTCD DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FTCD Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FTCD Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	ngs-false-positive-region
Green	FTL DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FTSJ1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FTSJ1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FUCA1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FUCA1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FUCA1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FUCA1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FUT8 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FUT8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FXN Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	nucleotide-repeat-expansion
Green	FXN_GAA Inborn errors of metabolism STR	BIALLELIC, autosomal or pseudoautosomal	N/A	STR
Green	FYCO1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FZD2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FZD2 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FZD6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	G6PC Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	G6PC3 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GAA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GAA Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GABBR2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense
Green	GABRA1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GABRA2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense
Green	GABRA5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GABRB2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GABRB3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GABRB3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	GABRD Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	GABRG2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GABRG2 Inborn errors of metabolism	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GAD1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALC Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALC Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALC DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALE Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALE Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALE DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALK1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALK1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALM Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALNS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALNS Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALNS Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALNT2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALNT2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALNT3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALNT3 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALT DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALT Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GAMT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GAMT DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GAMT Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GARS Inborn errors of metabolism	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	new-gene-name
Green	GAS8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GATA2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GATA3 Paediatric disorders - additional genes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GATA4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GATA6 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GATAD2B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GATAD2B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GATM Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GATM Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GATM DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GBA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	GBA Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	GBA2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GBE1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GCDH Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GCDH DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	GCDH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GCH1 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GCH1 Inborn errors of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GCH1 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	GCLC Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GDAP1 Inborn errors of metabolism	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	GDF1 Paediatric disorders - additional genes	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GDF5 Limb disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GDF5 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	GDF5 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GDF6 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	GDF6 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GDI1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GDI1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GEMIN5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFAP Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GFAP DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	GFER Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFER Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFM1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFM1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFM1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFM2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFPT1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GHR Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GHR DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GIF Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	GJA1 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	watchlist
Green	GJA1 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GJA1 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GJA1 Limb disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GJA3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	GJA8 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	GJB3 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GJC2 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	GJC2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GK Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GK Inborn errors of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GK DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GLA Inborn errors of metabolism	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	GLB1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLB1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLB1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLB1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLDC Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLDC DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLDC Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLE1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	GLI1 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLI2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GLI2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GLI2 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GLI3 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GLI3 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GLI3 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GLI3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GLI3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GLI3 Ophthalmological ciliopathies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GLI3 Neurological ciliopathies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GLI3 Skeletal ciliopathies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GLIS3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLIS3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLMN DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GLRA1 Inborn errors of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GLRX5 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLS Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	STR, watchlist_moi
Green	GLUD1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	GLUD1 Inborn errors of metabolism	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	GLUL Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLUL DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	GLUL Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLYCTK Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	GLYCTK Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GM2A Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GM2A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GM2A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPA Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPB Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPB DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	GNAI1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GNAI1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GNAI3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	GNAO1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GNAO1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GNAS Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	mosaicism
Green	GNAS Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	N/A	Q4_22_MOI
Green	GNAS DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	mosaicism
Green	GNAS Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	N/A	mosaicism, Q4_22_MOI
Green	GNB1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	GNB1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GNB2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GNB5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNE Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	Q2_21_MOI
Green	GNMT Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPAT Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPAT Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPAT DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPAT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPTAB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPTAB Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPTAB Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPTAB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPTG Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPTG Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPTG DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPTG Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNS Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNS Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GORAB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GORAB Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GPAA1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GPC3 Clefting	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	GPC3 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GPC3 Limb disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GPC3 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GPC4 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	Skewed X-inactivation
Green	GPC4 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GPC6 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GPD1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GPHN Inborn errors of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GPSM2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GPT2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GREB1L Paediatric disorders - additional genes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	GRHL3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GRHL3 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GRHPR Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GRIA2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GRIA3 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GRIA3 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GRIA4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GRID2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GRIK2 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GRIK2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GRIN1 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GRIN1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	GRIN2A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GRIN2A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GRIN2B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GRIN2B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GRIN2D Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GRIP1 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GRM1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GRM6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GSC Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GSS Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GTF2E2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GTF2H5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GTF2H5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GTPBP2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GTPBP3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GTPBP3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GTPBP3 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GUCY2C DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GUSB Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GUSB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GUSB Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GUSB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GYG1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GYS1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GYS2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GZF1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	H3F3A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	new-gene-name
Green	H3F3A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	new-gene-name
Green	H3F3B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	new-gene-name
Green	HAAO Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HACE1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HACE1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HADH DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HADH Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HADHA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HADHA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HADHA Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HADHB Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HAMP Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HARS2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HAX1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HCCS DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	HCCS Inborn errors of metabolism	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	HCCS Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	HCFC1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	HCFC1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	HCFC1 Inborn errors of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	HCN1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	HCN1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HDAC4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HDAC4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HDAC8 Skeletal dysplasia	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	HDAC8 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	HDAC8 Clefting	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	HDAC8 Limb disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	HDAC8 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	HECW2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	HECW2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	HEPACAM Intellectual disability	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	HERC1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HERC2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HES7 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HESX1 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	HEXA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HEXA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HEXA Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HEXB Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HEXB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HEXB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HFE Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HFE2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	HGD Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HGSNAT DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HGSNAT Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HGSNAT Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HGSNAT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HIBCH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HIBCH DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HIBCH Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HID1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HINT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HIST1H1E Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	new-gene-name
Green	HIST1H4C Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	new-gene-name
Green	HIVEP2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HIVEP2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HK1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	Loss-of-function variants DO NOT cause this phenotype	missense, Q3_22_MOI, Q3_22_NHS_review
Green	HLCS Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HLCS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HLCS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HMBS Inborn errors of metabolism	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HMGCL DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HMGCL Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HMGCL Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HMGCS2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HMGCS2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	HNF1B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HNF1B Renal ciliopathies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HNF4A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HNMT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HNRNPH1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HNRNPH2 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	HNRNPK DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HNRNPK Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HNRNPR Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HNRNPR DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HNRNPU Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HNRNPU DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HOGA1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HOXA1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HOXA1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HOXA13 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HOXA13 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HOXA13 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HOXC13 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HOXD13 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	nucleotide-repeat-expansion
Green	HOXD13 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HOXD13 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	HPD Inborn errors of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	HPD Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	HPDL Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	HPGD DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HPGD Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	HPRT1 Inborn errors of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	HPRT1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	HPRT1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	HPS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HPS1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HPSE2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HR DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HRAS DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	HRAS Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HS2ST1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HS2ST1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSD17B10 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	HSD17B10 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	HSD17B10 Inborn errors of metabolism	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	HSD17B4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSD17B4 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSD17B4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSD3B7 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSD3B7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSF4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	HSPD1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSPD1 Inborn errors of metabolism	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	HSPD1 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	Q2_22_MOI
Green	HSPG2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSPG2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HTRA2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HTRA2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HUWE1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	HUWE1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Other	N/A
Green	HYAL1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HYAL1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HYAL2 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	HYAL2 Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	HYDIN DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HYLS1 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HYLS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	HYLS1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HYLS1 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HYLS1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IARS Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	IARS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	IARS2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IBA57 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IBA57 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ICK Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	watchlist, new-gene-name
Green	ICK Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ICK Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ICK Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ICK Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	IDH1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	mosaicism
Green	IDH2 Inborn errors of metabolism	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	IDH2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	IDS Skeletal dysplasia	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	IDS Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	IDS Inborn errors of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	IDS DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	IDUA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IDUA Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IDUA Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IDUA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IER3IP1 Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IER3IP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IER3IP1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFIH1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	IFIH1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	watchlist
Green	IFIH1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	IFITM5 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	IFITM5 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	IFT122 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	IFT122 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT122 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT122 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT140 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT140 Renal ciliopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	IFT140 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT140 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT140 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT172 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT172 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT172 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT172 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT172 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT172 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT172 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT27 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT27 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT27 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT43 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT43 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	IFT43 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT43 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT52 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT52 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT74 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT80 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT80 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT80 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	IFT80 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT81 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT81 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IGF1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IGF1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IGF1R Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IGF1R DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	IGF2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	N/A	N/A
Green	IGHMBP2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IGSF1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	IHH Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	IHH Limb disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	cnv
Green	IHH DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	IKBKG DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	IKBKG Skeletal dysplasia	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	IKBKG Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	IL11RA Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IL11RA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	watchlist
Green	IL1RAPL1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	IL1RAPL1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	IL1RN Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IMPAD1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	IMPAD1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	IMPAD1 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	IMPDH2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	INPP5E Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INPP5E Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INPP5E Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INPP5E Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INPP5E DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INPP5K Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INPPL1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INPPL1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INTS1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INVS Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IQCB1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IQCB1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IQCE Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IQCE Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IQSEC2 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Other	N/A
Green	IQSEC2 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	IRF2BPL Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	IRF6 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	IRF6 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	IRX5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA-37390-Loss Intellectual disability 5p15 terminal (Cri du chat syndrome) region Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37392-Gain Intellectual disability 7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37392-Loss Intellectual disability 7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37393-Gain Clefting 22q11.21 recurrent (Cat eye syndrome) region (includes CECR2) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37393-Gain Intellectual disability 22q11.21 recurrent (Cat eye syndrome) region (includes CECR2) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37394-Loss Limb disorders 2q37.3 terminal region (includes HDAC4) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37394-Loss Intellectual disability 2q37.3 terminal region (includes HDAC4) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37394-Loss Skeletal dysplasia 2q37.3 terminal region (includes HDAC4) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37396-Loss Intellectual disability 15q24 recurrent region (A-D) (includes SIN3A) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37397-Gain Intellectual disability 22q11.2 recurrent region (distal region, LCR22-D to LCR22-E or -F) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37397-Loss Intellectual disability 22q11.2 recurrent region (distal region, LCR22-D to LCR22-E or -F) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37400-Gain Intellectual disability 16p11.2 recurrent region (includes TBX6) (proximal region) (BP4-BP5) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37400-Loss Intellectual disability 16p11.2 recurrent region (includes TBX6) (proximal region) (BP4-BP5) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37401-Loss Intellectual disability 11p13 (WAGR syndrome) region Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37404-Gain Intellectual disability 15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37404-Loss Intellectual disability 15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37405-Loss Renal ciliopathies 2q13 recurrent region (includes NPHP1) Loss region	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA-37405-Loss Intellectual disability 2q13 recurrent region (includes NPHP1) Loss region	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA-37406-Loss Skeletal dysplasia 16p13.3 region (includes CREBBP) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37406-Loss Intellectual disability 16p13.3 region (includes CREBBP) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37408-Loss Intellectual disability 2p15p16.1 region (includes BCL11A) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37411-Loss Intellectual disability 15q13.3 recurrent region (BP4-BP5) (includes CHRNA7) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37415-Gain Intellectual disability 16p13.11 recurrent region (includes MYH11) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37415-Loss Intellectual disability 16p13.11 recurrent region (includes MYH11) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37418-Gain Intellectual disability 17p11.2 recurrent (SMS/PLS) region (includes RAI1) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37418-Loss Intellectual disability 17p11.2 recurrent (SMS/PLS) region (includes RAI1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37418-Loss Skeletal dysplasia 17p11.2 recurrent (SMS/PLS) region (includes RAI1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37420-Loss Intellectual disability 17q21.3 recurrent region (includes KANSL1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37421-Gain Intellectual disability 1q21.1 recurrent region (BP3-BP4, distal) (includes GJA5) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37421-Loss Intellectual disability 1q21.1 recurrent region (BP3-BP4, distal) (includes GJA5) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37423-Gain Intellectual disability 8p23.1 recurrent region (includes GATA4) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37423-Gain Clefting 8p23.1 recurrent region (includes GATA4) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	watchlist
Green	ISCA-37423-Loss Intellectual disability 8p23.1 recurrent region (includes GATA4) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37424-Loss Intellectual disability 10q22.3q23.2 recurrent region (LCR-3/4-flanked) (includes BMPR1A) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37425-Gain Intellectual disability 5q35 recurrent (Sotos syndrome) region (includes NSD1) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37425-Loss Intellectual disability 5q35 recurrent (Sotos syndrome) region (includes NSD1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37429-Loss Intellectual disability 4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37430-Gain Intellectual disability 17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37430-Loss Intellectual disability 17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37431-Gain Intellectual disability 17q11.2 recurrent region (includes NF1) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37431-Loss Intellectual disability 17q11.2 recurrent region (includes NF1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37432-Gain Intellectual disability 17q12 recurrent (RCAD syndrome) region (includes HNF1B) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37432-Loss Renal ciliopathies 17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37432-Loss Intellectual disability 17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37433-Gain Intellectual disability 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37433-Loss Intellectual disability 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37433-Loss Clefting 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37434-Loss Intellectual disability 1p36 terminal region (includes GABRD) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37434-Loss Skeletal dysplasia 1p36 terminal region (includes GABRD) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37439-Gain Intellectual disability Xq28 recurrent region (includes GDI1) Gain region	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ISCA-37440-Loss Inborn errors of metabolism 2p21 region (includes PREPL and SLC3A1) Loss region	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA-37440-Loss Intellectual disability 2p21 region (includes PREPL and SLC3A1) Loss region	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA-37441-Loss Intellectual disability 11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37441-Loss Skeletal dysplasia 11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37443-Loss Intellectual disability 3q29 recurrent region (includes DLG1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37446-Gain Intellectual disability 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37446-Loss Clefting 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37446-Loss Intellectual disability 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37467-Gain Clefting 7q36.3 ZRS (SHH cis-regulatory) duplication region (within LMBR1 intron 5) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37468-Loss Intellectual disability Xp11.23 region (includes MAOA and MAOB) Loss region	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ISCA-37478-Gain Intellectual disability 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37478-Loss Intellectual disability 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37486-Loss Intellectual disability 16p11.2 recurrent region (includes SH2B1) (distal region) (BP2-BP3) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37493-Loss Intellectual disability 1q43q44 terminal region (includes AKT3) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37494-Gain Intellectual disability Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) Gain region	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ISCA-37494-Loss Intellectual disability Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) Loss region	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ISCA-37500-Loss Intellectual disability 15q25.2 recurrent region (LCR B-C, proximal) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37501-Loss Skeletal dysplasia 17q23.1q23.2 recurrent region (includes TBX2, TBX4) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37501-Loss Intellectual disability 17q23.1q23.2 recurrent region (includes TBX2, TBX4) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-46290-Gain Intellectual disability Xp11.22p11.23 recurrent region (includes SHROOM4) Gain region	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ISCA-46295-Loss Intellectual disability 15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7 and OTUD7A) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-46299-Gain Intellectual disability Xp11.22 region (includes HUWE1) Gain region	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ISCA1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCU Inborn errors of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	non-coding-known-pathogenic
Green	ISPD DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ISPD Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ISPD Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ITGA3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ITGA7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ITGA8 Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ITPA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ITPA Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ITPR1 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	watchlist
Green	ITPR1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IVD Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IVD Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IVD DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	JAG1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	JAGN1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	JAK3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	JAM3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	JARID2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KANSL1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KANSL1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KARS Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	KARS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	KARS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	KAT5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KAT6A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KAT6A Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KAT6A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KAT6B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KAT6B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KAT6B Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KAT8 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	missense
Green	KBTBD13 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	KCNA2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KCNA2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNB1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	KCNB1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNC1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNC1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	KCND2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	gene-checked
Green	KCNH1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNH1 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KCNJ10 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KCNJ10 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KCNJ11 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	KCNJ11 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	KCNJ2 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KCNJ6 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KCNK9 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Other	N/A
Green	KCNMA1 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	KCNN2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNN3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	KCNQ1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KCNQ2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KCNQ2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNQ3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KCNQ3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	KCNQ5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KCNT1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	KCNT1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNT2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	KCTD1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	KCTD3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	KCTD7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KCTD7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KDELR2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KDM1A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KDM3B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KDM4B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KDM5B Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	KDM5C Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	Q3_21_MOI
Green	KDM5C DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	KDM6A DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	KDM6A Clefting	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	KDM6A Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	KDM6B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KIAA0586 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIAA0586 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIAA0586 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIAA0586 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIAA0586 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIAA0586 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIAA0753 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIAA0753 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIAA0753 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIAA0753 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIAA0825 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIAA1109 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	KIDINS220 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KIF11 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KIF11 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KIF14 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIF1A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KIF1A DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	KIF1BP Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	KIF1BP DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	KIF1BP Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	KIF21B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	gene-checked
Green	KIF22 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	KIF22 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KIF2A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KIF5A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KIF5C Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KIF7 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIF7 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIF7 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIF7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIF7 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIF7 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIF7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIT DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KLF1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	KLF7 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	KLHL40 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KLHL7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KMT2A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KMT2A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KMT2C Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KMT2D Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KMT2D DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KMT2D Clefting	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KMT2D Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KMT2E DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KMT2E Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KMT5B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KMT5B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KNL1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KPTN Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KRAS Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KRAS DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	KRIT1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KYNU Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KYNU Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	L1CAM Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	L1CAM DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	L2HGDH Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	L2HGDH DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	L2HGDH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMA1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMA1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMA2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMA2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMB1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMC3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMC3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMP2 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	LAMP2 Inborn errors of metabolism	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	LAMP2 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	LARGE1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LARGE1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LARGE1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LARP7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LARP7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LARS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	LARS Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	LARS2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LBR DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LBR Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LBR Inborn errors of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LBR Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LBR Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LCAT Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LCT Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LDB3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	LDHA Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LDLR Inborn errors of metabolism	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	LDLRAP1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LEMD3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	LEMD3 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	LFNG DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	LHX3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LHX4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	LIAS Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIAS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIFR Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIG4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIG4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LINGO4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	LINS1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIPA Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIPT1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIPT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIPT2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LMBR1 Limb disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LMBR1 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LMBRD1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LMBRD1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LMBRD2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	gene-checked
Green	LMNA DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LMNA Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LMNB1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	LMX1B Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	LMX1B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	LMX1B Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	LONP1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LONP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LONP1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LPIN1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LPIN2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LPL Inborn errors of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LRIG2 Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRP2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRP2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	watchlist
Green	LRP4 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LRP4 Limb disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LRP4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRP5 Skeletal dysplasia	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	LRP5 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LRPPRC DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRPPRC Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRPPRC Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRRC6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	LRRK1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LSS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LTBP1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LTBP2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LTBP3 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	Q1_22_NHS_review, Q1_22_MOI
Green	LTBP3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LYRM7 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LYRM7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LYST DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LZTFL1 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LZTFL1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LZTFL1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LZTR1 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MAB21L1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAB21L2 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MAB21L2 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MACF1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	MADD Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAF Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MAF DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	MAFB Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MAFB DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	watchlist
Green	MAGEL2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	N/A	watchlist
Green	MAGEL2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	N/A	N/A
Green	MAGT1 Inborn errors of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	MAN1B1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	MAN1B1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAN1B1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAN2B1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAN2B1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAN2B1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAN2B1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MANBA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MANBA Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MANBA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAOA Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	MAOA Inborn errors of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	MAP1B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MAP2K1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MAP2K1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	MAP2K2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	MAP2K2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MAP3K1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MAP3K7 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MAP3K7 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	MAPK1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	MAPK8IP3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MAPKBP1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAPRE2 Intellectual disability	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Other	N/A
Green	MAPRE2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	MAPRE2 Clefting	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MARS2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MASP1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MASP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MASP1 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MASP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAST1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MAT1A Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MAT1A Inborn errors of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MATN3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	MATN3 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MBD5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MBOAT7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MBTPS1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MBTPS2 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	MBTPS2 Clefting	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	MC2R DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCCC1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCCC1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCCC1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCCC2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCCC2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCCC2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCEE DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCEE Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCM3AP Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCOLN1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCOLN1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCOLN1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCPH1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCPH1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MDH2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MDH2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MECOM Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MECP2 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	MECP2 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	MECR Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MED12 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Other	N/A
Green	MED12 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	Skewed X-inactivation
Green	MED13L Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MED17 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MED23 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MED25 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	MED25 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	MED27 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MEF2C DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MEF2C Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MEGF10 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MEGF8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MEGF8 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MEGF8 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MEIS2 Clefting	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MEIS2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MEOX1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MESD Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MESP2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MESP2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	METTL23 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	METTL5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	MFF Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MFF Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MFN2 Inborn errors of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MFRP DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MFSD2A DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	MFSD2A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MFSD8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MFSD8 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MFSD8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MGAT2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MGAT2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MGAT2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MGME1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MGP Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MGP DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MICU1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MICU1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MICU1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MID1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	MID1 Clefting	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	MID1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	MINPP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MIPEP Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MITF DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	watchlist
Green	MKKS Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MKKS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MKKS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MKKS Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MKKS Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MKKS Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MKS1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MKS1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MKS1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	MKS1 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	MKS1 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MKS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MKS1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MKS1 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MLC1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MLC1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MLYCD DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MLYCD Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MLYCD Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMAA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMAA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMAA Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMAB Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMAB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMAB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMACHC Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMACHC DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMACHC Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMADHC DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMADHC Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMADHC Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMP13 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MMP13 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	MMP2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMP21 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MN1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MNX1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MNX1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MOCS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MOCS1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MOCS1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MOCS2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MOCS2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MOCS2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MOGS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MOGS Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MORC2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	MPC1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPDU1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPDU1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPDU1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPDU1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPI Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPI DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPLKIP DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPLKIP Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPP5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	new-gene-name, gene-checked
Green	MPV17 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPV17 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MRE11 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MRPL3 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MRPL44 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MRPS2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MRPS22 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MRPS22 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MRPS34 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MRPS34 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MSL3 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	MSL3 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	MSMO1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MSMO1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MSTO1 Inborn errors of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MSX1 Clefting	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MSX1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MSX2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MSX2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MT-ATP6 Inborn errors of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-ATP8 Inborn errors of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-CO1 Inborn errors of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-CO2 Inborn errors of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-CO3 Inborn errors of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-CYB Inborn errors of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-ND1 Inborn errors of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-ND2 Inborn errors of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-ND3 Inborn errors of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-ND4 Inborn errors of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-ND4L Inborn errors of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-ND5 Inborn errors of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-ND6 Inborn errors of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-RNR1 Inborn errors of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TA Inborn errors of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TC Inborn errors of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TD Inborn errors of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TE Inborn errors of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TF Inborn errors of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TG Inborn errors of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TH Inborn errors of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TI Inborn errors of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TK Inborn errors of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TL1 Inborn errors of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TL2 Inborn errors of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TM Inborn errors of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TN Inborn errors of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TP DDG2P	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TP Inborn errors of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TQ Inborn errors of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TR Inborn errors of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TS1 Inborn errors of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TS2 Inborn errors of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TV Inborn errors of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TW Inborn errors of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-TY Inborn errors of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MTFMT Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTFMT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTHFR Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTHFR DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTHFR Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTHFS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTM1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	MTO1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTO1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTO1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTOR DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	watchlist
Green	MTOR Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	missense, mosaicism, somatic
Green	MTPAP Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTR DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTR Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTR Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTRR DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTRR Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTRR Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTTP Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTX2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MUT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	MUT DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	MUT Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	MVK Inborn errors of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MVK Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYCN Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYCN Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYCN Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYCN DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MYH3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	watchlist
Green	MYH6 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	Q3_22_rating, Q3_22_expert_review
Green	MYH7 Paediatric disorders - additional genes	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MYH8 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MYH9 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MYMK Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYO18B Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYO5A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYO5A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYO5B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYO7A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYOCD Paediatric disorders - additional genes	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MYT1L Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYT1L DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	watchlist
Green	NAA10 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	NAA10 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	NAA15 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NACC1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	missense
Green	NACC1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	NADK2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NADSYN1 Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAGA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAGA Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAGA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAGLU Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAGLU DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAGLU Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAGLU Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAGS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAGS Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NALCN DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	NALCN Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	NANS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NANS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NANS Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NARS Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	new-gene-name
Green	NARS2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAXD Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAXE Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NBAS Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NBAS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NBEA Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NBN DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NCDN Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NCKAP1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	NDE1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDE1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDP DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	NDP Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	NDST1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	NDUFA1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	NDUFA1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	NDUFA1 Inborn errors of metabolism	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	NDUFA10 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA11 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA12 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA4 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA6 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA9 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF3 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF4 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF5 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF6 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF8 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	NDUFB11 Inborn errors of metabolism	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	NDUFB3 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFB8 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFC2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS3 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS4 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS6 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS7 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS8 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	NDUFV1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	NDUFV1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFV1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFV2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NECTIN1 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NECTIN4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEDD4L Clefting	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NEDD4L Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NEK1 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEK1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	monogenic-polygenic
Green	NEK1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEK1 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEK8 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEMF Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEU1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEU1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEU1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEU1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEUROD2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NEXMIF Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	NF1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NF1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NF1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NFASC Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NFIA Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	deletions
Green	NFIX Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NFIX Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NFIX DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NFU1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NFU1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NFU1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	NGLY1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NGLY1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NGLY1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NHLRC1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NHS DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	NHS Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	NIPBL Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NIPBL Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NIPBL Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NIPBL DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NIPBL Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NKAP Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	missense
Green	NKX2-1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NKX2-1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NKX2-5 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NKX3-2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NKX3-2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NLGN3 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	NLRP3 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NMNAT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NNT Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NODAL DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NOG DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NOG Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NOG Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NONO Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	NOTCH1 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NOTCH1 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NOTCH1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NOTCH2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	NOTCH2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NOVA2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NPC1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPC1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPC1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPC2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPC2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPC2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP1 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP3 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP3 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP3 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP4 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP4 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHS2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPR2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPR2 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	NPR3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NR2F1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NR2F1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NR2F2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NR4A2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	Autism Spectrum Disorder
Green	NR5A1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	NRAS DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	NRAS Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NRROS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NRXN1 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	NSD1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NSD1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NSD1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NSD2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NSDHL Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	NSDHL DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	NSDHL Inborn errors of metabolism	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	NSDHL Skeletal dysplasia	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	NSUN2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NT5C2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NT5C3A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NT5C3A Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NTNG2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	NTRK1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NTRK1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NTRK2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NUBPL Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NUBPL Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NUBPL DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NUDT2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NUP107 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	watchlist
Green	NUS1 Intellectual disability	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	NXN Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NYX DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	OAT Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OBSL1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OBSL1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OCLN Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OCRL DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	OCRL Inborn errors of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	OCRL Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ODC1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	OFD1 Skeletal dysplasia	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	OFD1 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	OFD1 Clefting	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	OFD1 Renal ciliopathies	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	OFD1 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	OFD1 Ophthalmological ciliopathies	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	OFD1 Neurological ciliopathies	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	OGT Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	OPA1 Inborn errors of metabolism	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	OPA3 Inborn errors of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	OPA3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OPHN1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	OPHN1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ORC1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ORC1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ORC4 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ORC4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ORC6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ORC6 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OSGEP Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OSTM1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OTC Inborn errors of metabolism	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	OTC DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	OTC Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	gene-therapy-trial
Green	OTOGL DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OTUD5 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	OTUD6B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OTULIN DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OTX2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	OTX2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	OXCT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OXCT1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OXR1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	P3H1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	P3H1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	P4HB Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	P4HTM Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PACS1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PACS2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PAFAH1B1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PAFAH1B1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PAH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PAH Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PAH DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PAK1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	missense
Green	PAK3 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PAK3 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PALB2 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PALB2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PANK2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PAPSS2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PAPSS2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PARN Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PARN DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PARS2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PAX2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PAX3 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PAX3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PAX3 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PAX3 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PAX6 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PAX6 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PAX8 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PAX8 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PAX9 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PBX1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PC Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PC Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PC DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCBD1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCBD1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCCA Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCCA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCCA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCCB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCCB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCCB Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCDH12 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	PCDH19 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	mosaicism, x-linked-over-dominance, somatic
Green	PCDH19 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	PCDHGC4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCGF2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	PCGF2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	watchlist
Green	PCK1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCNT Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCNT Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCNT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCNT DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCSK9 Inborn errors of metabolism	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	PCYT1A Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCYT1A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCYT2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDCD10 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PDE3A Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	PDE3A Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PDE4D DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	PDE4D Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PDE4D Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	PDE6G DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDGFRB DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	PDGFRB Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PDHA1 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	PDHA1 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	PDHA1 Inborn errors of metabolism	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	PDHB Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDHB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDHX Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	deletions
Green	PDHX Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDHX DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDP1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDSS1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDSS1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDSS2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDSS2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDSS2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEPD DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEPD Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEPD Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PET100 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PET100 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX10 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX10 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX10 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX11B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX11B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX11B Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX12 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX12 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX12 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX13 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX13 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX13 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX14 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX14 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX14 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX16 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX16 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX16 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX19 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX19 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX19 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX26 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX26 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX26 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX3 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX5 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX5 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX6 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	Other	Q1_22_MOI
Green	PEX6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	Q1_22_MOI
Green	PEX6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX7 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX7 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PFKM Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGAM2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGAP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGAP2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	PGAP2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGAP2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGAP3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGAP3 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGAP3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGK1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PGK1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PGK1 Inborn errors of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PGM1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGM1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGM2L1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	PGM3 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGM3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGM3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGM3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PHACTR1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	PHEX Skeletal dysplasia	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	PHF21A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	deletions
Green	PHF6 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PHF6 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	PHF8 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PHF8 Clefting	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PHF8 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PHGDH DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PHGDH Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PHGDH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PHGDH Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PHIP DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PHIP Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PHKA1 Inborn errors of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PHKA2 Inborn errors of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PHKB Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PHKG2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PHOX2B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	PHYH Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PI4KA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIBF1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIBF1 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIDD1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIEZO2 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PIEZO2 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PIGA DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	Skewed X-inactivation
Green	PIGA Inborn errors of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	Skewed X-inactivation
Green	PIGA Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	Skewed X-inactivation
Green	PIGB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGC Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGG Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	Autism Spectrum Disorder
Green	PIGK Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGL Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGL Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGL DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGN Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGN Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGN Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGO DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGO Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGO Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGP Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGQ Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGQ Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGS Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGT Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGT DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	PIGT Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGU Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	missense
Green	PIGV Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGV Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGV DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	PIGV Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGV Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGW Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIK3C2A Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIK3C2A Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIK3CA Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	mosaicism, somatic
Green	PIK3CA Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	mosaicism, somatic
Green	PIK3CA DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	mosaicism
Green	PIK3R1 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PIK3R1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PIK3R2 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	PIK3R2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	PIK3R2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PINK1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PISD Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PITRM1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	PITX1 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PITX1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PITX2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PITX3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PKD1 Renal ciliopathies	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	PKD1L1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PKD2 Renal ciliopathies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PKDCC Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PKHD1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PKHD1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLA2G6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLA2G6 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLA2G6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLAA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLCB1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLCE1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLK4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLK4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLOD1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLOD2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLOD2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLP1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PLP1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PLPBP Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLS3 Skeletal dysplasia	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	PMM2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMM2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMM2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMM2 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMM2 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMM2 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMM2 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMPCA Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMPCB Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMPCB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMS2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNKP DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNKP Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNP Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPLA6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPLA8 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPO Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPT1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POC1A Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POC1A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POC1B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POGZ DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	POGZ Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	POLA1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	POLA1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	POLD1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	POLG Inborn errors of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	POLG Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLG DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	POLG2 Inborn errors of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	POLR1A Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	POLR1B Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	POLR1B Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	POLR1C Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLR1C Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLR1C DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLR1C Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLR1D Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	POLR1D DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	POLR1D Clefting	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	POLR2A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	POLR2A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	POLR3A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLR3A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLR3B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLR3B Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMK Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POP1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POR Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POR Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PORCN DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	PORCN Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	PORCN Clefting	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	PORCN Limb disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	POU1F1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POU3F3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	POU3F3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	PPA2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	PPA2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPIB Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPIL1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPM1D Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PPM1D DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PPOX Inborn errors of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PPP1CB DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	PPP1CB Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PPP1R12A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PPP1R15B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPP1R21 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	PPP2CA Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PPP2R1A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PPP2R1A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	PPP2R5D DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	PPP2R5D Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PPP3CA Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PPT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPT1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PQBP1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PQBP1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PRDM12 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRICKLE2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	PRKACB Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PRKAG2 Inborn errors of metabolism	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PRKAR1A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	PRKAR1A Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	Q2_22_MOI
Green	PRKD1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	PRKG2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRMT7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRMT7 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRMT7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRMT7 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRODH Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRODH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	Q2_22_rating, Q2_22_expert_review, Q2_22_NHS_review
Green	PROP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRPS1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PRPS1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PRPS1 Inborn errors of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PRR12 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PRRT2 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PRSS12 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRSS12 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRSS56 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRUNE1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PSAP Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PSAP DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PSAP Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PSAT1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PSAT1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PSMB8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	PSMD12 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PSPH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PSPH Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PSPH DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PTCH1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PTCH1 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PTCH1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PTCHD1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PTCHD1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PTDSS1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PTDSS1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	PTDSS1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PTEN DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	mosaicism
Green	PTEN Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PTF1A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PTF1A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PTH1R Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PTH1R DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PTHLH DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PTHLH Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PTHLH Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PTPN11 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	PTPN11 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PTPN11 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PTPN23 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PTPN4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	PTRHD1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	PTS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PTS Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PTS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PUF60 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	microdeletion
Green	PUF60 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	watchlist
Green	PUF60 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	microdeletion
Green	PUM1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PURA Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PURA DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PUS1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PUS1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PUS3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PUS7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PYCR1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PYCR1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PYCR1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PYCR1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PYCR2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PYGL DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PYGL Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PYGM Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	QARS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	QDPR Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	QDPR DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	QDPR Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	QRICH1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	QRICH1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	QRSL1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB11B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RAB18 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB18 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB23 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB23 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB23 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB23 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB33B Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB39B DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	RAB39B Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	RAB3GAP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB3GAP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB3GAP2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB3GAP2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAC1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RAC3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	RAD21 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RAD21 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RAF1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RAF1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	RAI1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RAI1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RALA Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	RALGAPA1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAPSN DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RARB DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RARB Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RARS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	RARS2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RARS2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RARS2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RASA1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RASGRP2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAX DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RBBP8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RBCK1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RBM10 Clefting	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	RBM10 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	RBM8A Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RBM8A Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RBM8A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RBP4 Inborn errors of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RBPJ Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RBPJ Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RECQL4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RECQL4 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RECQL4 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RELN Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RELN DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	REN Paediatric disorders - additional genes	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RERE DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RERE Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RET DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RETREG1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RFT1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RFT1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RFT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RFX3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	RFX4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	RFX6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RFX7 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	RHOBTB2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	RINT1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RINT1 Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RIPK4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RIT1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	RIT1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RLIM Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	missense
Green	RMND1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RMND1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RMRP Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	locus-type-rna-misc
Green	RMRP DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNASEH1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNASEH2A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNASEH2A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNASEH2B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNASEH2B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNASEH2C DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNASEH2C Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNASET2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNASET2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNF113A Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	Skewed X-inactivation
Green	RNF125 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RNF13 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	RNU4ATAC Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNU4ATAC DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	RNU4ATAC Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	locus-type-rna-small-nuclear
Green	RNU7-1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	ROBO3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ROGDI DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ROGDI Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ROR2 Limb disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ROR2 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ROR2 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ROR2 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	Q4_22_demote_red, Q4_22_NHS_review
Green	ROR2 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RORA Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPE65 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RPGRIP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RPGRIP1L DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RPGRIP1L Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RPGRIP1L Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RPGRIP1L Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RPGRIP1L Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RPGRIP1L Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RPIA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RPIA Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RPL10 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	RPL10 Inborn errors of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	RPL11 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPL11 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPL13 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPL35A Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPL5 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPL5 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPS10 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPS17 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPS19 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPS19 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPS24 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPS26 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPS26 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPS6KA3 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	RPS6KA3 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	RPS7 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RRAS2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	RRM2B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RRM2B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RRM2B Inborn errors of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RSPH1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RSPH3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RSPO4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RSRC1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RTEL1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RTEL1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RTN4IP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RTN4IP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RTN4IP1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RTTN DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	RTTN Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RUNX2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RUNX2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RYR1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SACS Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SALL1 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SALL1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SALL1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SALL4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SALL4 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SALL4 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SALL4 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SAMD9 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SAMD9 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	missense
Green	SAMHD1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SAMHD1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SAMHD1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SAR1B Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SARS2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SARS2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SATB1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SATB2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SATB2 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SATB2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SBDS Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SBDS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SBDS Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SBF1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SC5D DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	SC5D Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SC5D Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCAPER Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCARF2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCARF2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCARF2 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCLT1 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	SCLT1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	SCN11A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	watchlist
Green	SCN1A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SCN1A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SCN1B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SCN2A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SCN2A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SCN3A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SCN4A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SCN8A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SCN8A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	SCO1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCO1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCO2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCO2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCO2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCP2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCUBE3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCYL1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDCCAG8 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDCCAG8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDCCAG8 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDCCAG8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDHA Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	Q3_22_MOI
Green	SDHA DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	SDHA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDHAF1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDHAF1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	SDHAF1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDHB Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDHD Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SEC23B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SEC23B Inborn errors of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SEC24D Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SEPSECS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SEPSECS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SEPT9 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	new-gene-name, Q3_21_rating
Green	SERAC1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SERAC1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SERPINF1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SERPINH1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SET Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SETBP1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SETBP1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SETD1A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SETD1B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SETD2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SETD2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	de novo
Green	SETD5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SETD5 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SETX Inborn errors of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SF3B4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SF3B4 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SF3B4 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SF3B4 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SFRP4 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SFRP4 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SFXN4 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SFXN4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGMS2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SGPL1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGSH Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGSH DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGSH Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGSH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SH3BP2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SH3PXD2B Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SH3PXD2B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SHANK2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SHANK3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SHH Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SHH DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SHH Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SHMT2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SHMT2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SHOC2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SHOC2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SHOX Limb disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	Pseudoautosomal region 1
Green	SHOX Skeletal dysplasia	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	Pseudoautosomal region 1
Green	SHOX DDG2P	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	Pseudoautosomal region 1
Green	SI Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SIAH1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SIK1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SIK1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SIL1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SIL1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SIM1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	multifactorial, gene-checked
Green	SIN3A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SIN3B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	SIX1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	watchlist
Green	SIX1 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SIX3 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SIX3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SIX3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SIX5 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SIX5 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SKI Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SKI DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SKI Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SKI Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SKIV2L DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	SKIV2L Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	SLC10A7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC10A7 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC12A2 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SLC12A3 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC12A5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	Q1_22_MOI
Green	SLC12A6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC12A6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC13A5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC13A5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC16A1 Inborn errors of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SLC16A2 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SLC16A2 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SLC17A5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC17A5 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC17A5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC17A5 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC18A2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC19A2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC19A3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC19A3 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC19A3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC1A1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC1A2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SLC1A4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC22A5 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC22A5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A12 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A12 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A13 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A15 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A15 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A15 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A19 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A20 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A20 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A22 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A22 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A24 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SLC25A26 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A26 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A3 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A32 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	SLC25A38 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A38 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A4 Inborn errors of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A42 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A46 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC26A2 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC26A2 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC26A2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC26A2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC27A4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC29A3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC2A1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SLC2A1 Inborn errors of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SLC2A1 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SLC2A10 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC2A2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC2A2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC30A10 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC33A1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC33A1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC34A1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SLC34A3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC35A1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC35A1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC35A2 Inborn errors of metabolism	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	SLC35A2 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	SLC35A2 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	SLC35C1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC35C1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC35C1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC35C1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC35D1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC35D1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC35D1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC37A4 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	Q3_22_MOI
Green	SLC39A13 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC39A13 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC39A14 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC39A14 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC39A4 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC39A8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	SLC39A8 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC39A8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC3A1 Inborn errors of metabolism	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	SLC40A1 Inborn errors of metabolism	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SLC46A1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC46A1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC46A1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC4A1 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	SLC4A11 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC4A4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC4A4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC52A2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC52A2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC52A3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC52A3 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC5A1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC5A5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC5A6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC5A6 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC6A1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SLC6A1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SLC6A17 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC6A19 Inborn errors of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SLC6A19 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC6A20 Inborn errors of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SLC6A3 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC6A3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC6A3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC6A5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC6A8 Inborn errors of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SLC6A8 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SLC6A8 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SLC6A9 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC7A7 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC7A9 Inborn errors of metabolism	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	SLC9A6 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	SLC9A6 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SLCO2A1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLX4 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLX4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLX4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMAD3 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMAD3 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SMAD3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMAD4 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SMAD4 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMAD4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	watchlist
Green	SMAD4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMAD6 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SMAD6 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMARCA2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SMARCA2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SMARCA4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMARCA4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SMARCA5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	SMARCAL1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMARCAL1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMARCB1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMARCB1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SMARCC2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMARCD1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMARCE1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SMC1A Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	SMC1A Skeletal dysplasia	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	SMC1A Limb disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	SMC1A DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	SMC1A Clefting	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	SMC3 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMC3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SMC3 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SMC3 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMC3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMCHD1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SMG8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMO Limb disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	mosaicism, somatic
Green	SMO DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	mosaicism
Green	SMOC1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMOC1 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMOC1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMOC1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMPD1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMPD1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMPD1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMPD4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMS Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SMS Clefting	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SNAP25 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SNAP29 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SNIP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	SNORD118 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SNRPB Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SNRPB Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SNRPB Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SNRPB DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SNX10 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SNX14 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SNX14 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SNX27 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	SON Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SON DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SON Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SOS1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SOS1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SOS2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SOST Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SOX10 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SOX10 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SOX11 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SOX11 Paediatric disorders - additional genes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SOX17 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SOX2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SOX2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SOX3 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	SOX4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SOX5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SOX6 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SOX9 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SOX9 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SOX9 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SOX9 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SP7 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPAG1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPARC Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPART Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPATA5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPATA5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPECC1L Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SPECC1L Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SPEG DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPEN Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SPG11 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPG11 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPG7 Inborn errors of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SPOP Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	SPR DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPR Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	SPR Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	SPRED1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SPRED1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SPTAN1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SPTBN1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SPTBN2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	watchlist
Green	SPTBN2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPTBN4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPTLC1 Inborn errors of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	Q1_22_MOI
Green	SPTLC2 Inborn errors of metabolism	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SPTLC2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SRCAP Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SRCAP DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SRD5A3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SRD5A3 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SRD5A3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SRY DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	y-chromosome
Green	SSBP1 Inborn errors of metabolism	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	Q1_22_MOI
Green	SSR4 Inborn errors of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SSR4 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ST3GAL3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ST3GAL3 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ST3GAL5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ST3GAL5 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STAG1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	microdeletion
Green	STAG1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	STAG2 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	STAG2 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	STAMBP Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STAMBP DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STAMBP Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STAR DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STIL Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STN1 Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STRA6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STRA6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STRADA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	deletions
Green	STS DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	STS Inborn errors of metabolism	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	STT3A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	Q3_22_MOI, Q3_22_NHS_review
Green	STX1B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	STXBP1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	STXBP1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SUCLA2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUCLG1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUCLG1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUCLG1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUMF1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUMF1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUMF1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUMF1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUOX Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUOX Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUPT16H Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SURF1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SURF1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SURF1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUZ12 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SUZ12 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SVBP Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	SYN1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SYNCRIP Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	SYNE1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SYNGAP1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SYNGAP1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SYNJ1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SYP Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SYP DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SYT1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	de novo
Green	SZT2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAB2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	TACO1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAF1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	TAF1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	TAF6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TALDO1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TALDO1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TANC2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TANGO2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TANGO2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TANGO2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAOK1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TAOK1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TAPT1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TARS2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TASP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAT DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAT Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAZ Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	new-gene-name
Green	TAZ DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	new-gene-name
Green	TAZ Inborn errors of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	new-gene-name
Green	TBC1D20 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBC1D23 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBC1D23 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBC1D24 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBC1D24 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBCD DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBCD Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBCE Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBCE Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBCE DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	watchlist
Green	TBCK DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBCK Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBL1XR1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TBL1XR1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TBR1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TBX1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TBX15 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBX15 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBX18 Paediatric disorders - additional genes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TBX20 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TBX22 Clefting	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	TBX22 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	TBX3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TBX3 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TBX3 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TBX4 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TBX4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TBX4 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TBX5 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TBX5 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TBX5 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TBX6 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TBXAS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	TBXAS1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCF12 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TCF20 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	de novo
Green	TCF20 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TCF4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TCF4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TCF7L2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TCIRG1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCN2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCN2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCN2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCOF1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TCOF1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TCOF1 Clefting	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TCTEX1D2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TCTEX1D2 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TCTN1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN1 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN2 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN2 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN2 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN3 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN3 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN3 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN3 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TDP2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TECPR2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TEK DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	TELO2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TELO2 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TENM3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TERT DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	TERT Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TET3 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TFAP2A Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TFAP2A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	TFAP2B Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TFAP2B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	TFE3 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	Skewed X-inactivation
Green	TFR2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TGDS Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TGDS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TGDS Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TGFB1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	TGFB1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TGFB2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TGFB2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TGFB3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TGFB3 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TGFBR1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	TGFBR1 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TGFBR2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TGFBR2 Clefting	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TGFBR2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TGIF1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TGIF1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TH DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TH Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	THAP1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	THOC2 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	THOC6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	THOC6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	THRA DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	THRA Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TIMM50 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TIMM50 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TIMM8A DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	TIMM8A Inborn errors of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	TINF2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TK2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	TK2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TLK2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TMCO1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMCO1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMCO1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMCO1 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM106B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	missense
Green	TMEM107 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM107 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM107 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM126B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM126B Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM138 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM138 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM138 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM165 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM165 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM165 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM165 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM199 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM216 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM216 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM216 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM216 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM216 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM218 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TMEM218 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TMEM222 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TMEM231 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM231 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM231 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM231 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM237 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM237 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM237 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM237 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM237 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM240 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TMEM38B Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM5 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TMEM5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TMEM5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TMEM67 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM67 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM67 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM67 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM67 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM67 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM70 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM70 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM70 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM94 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TMPRSS6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMTC3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMX2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TNFRSF11A Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	for-review, to_be_confirmed_NHSE
Green	TNFRSF11B Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TNFSF11 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TNPO2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TNRC6B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TOE1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TONSL Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TOP3A Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TOP3A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TOR1A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TP63 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TP63 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TP63 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TP63 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TP73 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TPK1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TPP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TPP1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TPP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAF3IP1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAF3IP1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAF7 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TRAF7 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	watchlist
Green	TRAIP Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAP1 Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TRAP1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TRAPPC12 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAPPC2 Skeletal dysplasia	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	TRAPPC2 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	TRAPPC4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAPPC6B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAPPC9 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAPPC9 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAPPC9 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TREM2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TREX1 Inborn errors of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TREX1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TREX1 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TRIM32 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRIM37 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRIM37 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRIM37 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRIM8 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TRIO Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TRIP11 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRIP11 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRIP12 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TRIP12 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TRIT1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TRIT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TRMT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRMT10A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRMT10C Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRMT5 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRMU Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRNT1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRNT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRPM1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRPM3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	missense, gene-checked
Green	TRPM6 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRPS1 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TRPS1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TRPS1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TRPV4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	TRPV4 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TRPV4 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TRPV6 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRRAP Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	TSC1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TSC1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TSC2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TSC2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TSEN2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSEN34 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSEN54 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSEN54 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSFM Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSFM Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSHB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSHB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSHR DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	TSPAN7 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	TSPAN7 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	TSPYL1 Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC19 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC19 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC19 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC21B Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC21B Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC21B Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	watchlist_moi
Green	TTC37 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TTC37 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TTC37 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TTC5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TTC7A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC8 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC8 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC8 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC8 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTI2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTN Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTPA Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TUBA1A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TUBA1A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TUBA8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TUBB DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	TUBB Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TUBB Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TUBB2A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	TUBB2A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TUBB2B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	TUBB2B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TUBB3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TUBB4A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TUBB4A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	TUBG1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TUBGCP6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TUBGCP6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TUFM Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TUSC3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TUSC3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TUSC3 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TWIST1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TWIST1 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TWIST1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TWIST1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TWIST2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	watchlist
Green	TWNK Inborn errors of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TXNDC15 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TXNDC15 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TXNDC15 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TXNL4A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TXNL4A Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TYMP Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TYR DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TYROBP Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TYRP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBA5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBA5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBE2A Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	UBE2A DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	UBE2T Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBE3A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	N/A	N/A
Green	UBE3A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	N/A	N/A
Green	UBE3B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBE3B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBE4A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBR1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBR1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBR7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBTF Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	UFC1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UFM1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UFM1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	de novo
Green	UFSP2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	UFSP2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	UGDH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UGP2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UGT1A1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UGT1A1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UMOD Inborn errors of metabolism	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	UMPS Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UMPS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UMPS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UNC45A Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UNC80 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UNC80 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UPB1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UPF3B DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	UPF3B Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	UQCC2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UQCRB Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UROC1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UROC1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	UROD Inborn errors of metabolism	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	UROS Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UROS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	USB1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	USP7 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	USP9X Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	USP9X Clefting	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	USP9X Limb disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	UVSSA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VAMP2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	VARS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	VARS2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VARS2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VDR DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VDR Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VIPAS39 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VIPAS39 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VKORC1 Inborn errors of metabolism	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	VLDLR Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VLDLR DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS11 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS13B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS13B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS13B Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS13B Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS33B Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS33B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS41 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS4A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	VPS53 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS53 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	VRK1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VSX2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WAC DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	WAC Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	WARS2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WARS2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WASF1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	WBP11 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	WDFY3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	WDPCP Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDPCP Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDPCP DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDPCP Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDPCP Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDPCP Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR11 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	WDR19 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR19 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR19 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR19 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR19 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR26 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	WDR26 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	WDR34 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	new-gene-name
Green	WDR34 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	WDR34 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	WDR35 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR35 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR35 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR35 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR37 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	missense, gene-checked
Green	WDR37 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	gene-checked
Green	WDR4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR45 Inborn errors of metabolism	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	WDR45 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	WDR45 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	WDR45B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR60 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	WDR60 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	WDR60 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	WDR60 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	WDR60 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	WDR62 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR62 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR73 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR81 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WFS1 Inborn errors of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	WISP3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	WNT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WNT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WNT1 Skeletal dysplasia	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	WNT10B Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WNT10B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WNT10B Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WNT3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WNT5A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	WNT5A Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	WNT5A Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	WNT5A Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	WNT7A Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WNT7A Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WNT7A DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	WRAP53 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	WT1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	WWOX Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XDH Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XPA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XPC DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XRCC4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XRCC4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XRCC4 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XYLT1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XYLT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XYLT1 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XYLT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	watchlist
Green	XYLT1 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XYLT2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XYLT2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	YARS2 Inborn errors of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	YIF1B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	YIPF5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	YWHAG Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	YY1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	YY1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	YY1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ZBTB18 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZBTB18 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZBTB20 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ZBTB20 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ZBTB24 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZC4H2 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	Q4_21_MOI
Green	ZC4H2 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ZDHHC9 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ZDHHC9 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ZEB2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZEB2 Clefting	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ZEB2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ZFHX4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZFP57 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZFYVE26 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZFYVE26 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZIC1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ZIC1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ZIC2 Clefting	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ZIC2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ZIC2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZIC3 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ZIC3 Limb disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ZIC3 Clefting	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ZMIZ1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZMPSTE24 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZMPSTE24 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZMYND11 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ZNF142 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZNF335 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZNF462 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZNF526 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZNF687 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	ZNF699 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZNF711 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ZNF711 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ZSWIM6 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZSWIM6 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	missense, mosaicism
Green	ZSWIM6 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	curated-variant-list, mosaicism
Green	ZSWIM6 Neurological ciliopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	ZSWIM6 Skeletal ciliopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	ZSWIM6 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A

Paediatric disorders (Version: 72.160.960.952.535.224.214.43)

Paediatric disorders (Version: )