Genomics England

Paediatric disorders (Version: )

Relevant disorders: Congenital malformation and dysmorphism syndromes - microarray and sequencing, Congenital malformation and dysmorphism syndromes, R27

This panel contains these 12 panels:

DDG2P
Intellectual disability - microarray and sequencing
Likely inborn error of metabolism - targeted testing not possible
Skeletal dysplasia
Monogenic hearing loss
Paediatric disorders - additional genes
Clefting
Ophthalmological ciliopathies
Renal ciliopathies
Neurological ciliopathies
Limb disorders
Skeletal ciliopathies

Signed off date: 22 Mar 2023

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

See this panel in PanelApp

2453 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 - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AARS Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	AARS2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AASS Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AASS Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABAT Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABAT Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCA1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCA2 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCB11 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCB11 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCB4 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ABCB7 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Other	N/A
Green	ABCB7 Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	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 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	watchlist_moi
Green	ABCC9 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ABCD1 Intellectual disability - microarray and sequencing	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	gene-therapy-trial
Green	ABCD1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ABCD1 Likely inborn error of metabolism - targeted testing not possible	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	ABCD4 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCD4 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCG5 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCG8 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABHD12 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABHD12 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABHD16A Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABHD5 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABHD5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABHD5 Likely inborn error of metabolism - targeted testing not possible	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 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACAD9 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACAD9 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACAD9 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADM Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADM DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADM Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADS Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADS DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	ACADS Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	ACADSB Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADVL Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADVL DDG2P	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 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACAT1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACE Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACER3 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACO2 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ACO2 Intellectual disability - microarray and sequencing	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ACOX1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	watchlist_moi
Green	ACOX1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACOX1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACP5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACP5 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACSF3 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACSL4 Intellectual disability - microarray and sequencing	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 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	watchlist
Green	ACTB Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ACTB Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ACTC1 Paediatric disorders - additional genes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ACTG1 Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ACTG1 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ACTG1 Intellectual disability - microarray and sequencing	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 - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	ACTL6B Intellectual disability - microarray and sequencing	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 - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACY1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACY1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADA Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAM22 Intellectual disability - microarray and sequencing	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	ADAMTS19 Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAMTSL2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAR Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ADAR DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ADAR Intellectual disability - microarray and sequencing	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ADARB1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAT3 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADD1 Intellectual disability - microarray and sequencing	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ADD3 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADGRG1 Intellectual disability - microarray and sequencing	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	ADGRV1 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADK Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADNP Intellectual disability - microarray and sequencing	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 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	ADSL Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADSL Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AFF2 Intellectual disability - microarray and sequencing	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	AFF3 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	AFF3 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	missense
Green	AFF4 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	AFF4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	AFG3L2 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	AGA Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGA Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGA Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGK Likely inborn error of metabolism - targeted testing not possible	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 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGO1 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	AGO2 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	AGPS DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	AGPS Likely inborn error of metabolism - targeted testing not possible	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 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGXT DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AHCY Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	AHCY Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	AHDC1 Intellectual disability - microarray and sequencing	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 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AHI1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AHI1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AHI1 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AIFM1 Monogenic hearing loss	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	AIFM1 Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	AIFM1 Intellectual disability - microarray and sequencing	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	AIMP1 Intellectual disability - microarray and sequencing	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 Likely inborn error of metabolism - targeted testing not possible	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 - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	mosaicism
Green	ALAD Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALAD DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	ALAS2 Likely inborn error of metabolism - targeted testing not possible	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 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH18A1 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH18A1 Intellectual disability - microarray and sequencing	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH1A3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH3A2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH3A2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH3A2 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH4A1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH4A1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH4A1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH5A1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH5A1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH5A1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH6A1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH7A1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH7A1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH7A1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDOA Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDOA DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	ALDOB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDOB Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG11 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG11 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG12 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG12 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG12 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG12 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG13 Intellectual disability - microarray and sequencing	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 Likely inborn error of metabolism - targeted testing not possible	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 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG3 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG6 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG6 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG8 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG8 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG9 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG9 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG9 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALKBH8 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALMS1 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALMS1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALMS1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALMS1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALMS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	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	ALPL Likely inborn error of metabolism - targeted testing not possible	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	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 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ALX4 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	AMACR Likely inborn error of metabolism - targeted testing not possible	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 - microarray and sequencing	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 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AMPD2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AMPD2 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AMT Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AMT Likely inborn error of metabolism - targeted testing not possible	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 - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ANK3 Intellectual disability - microarray and sequencing	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ANKH DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ANKH Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ANKRD11 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ANKRD11 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ANKRD11 Clefting	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ANKRD11 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ANKRD17 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ANKS6 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANO10 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANO5 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
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 - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	AP1S1 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP1S1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP1S2 Intellectual disability - microarray and sequencing	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	AP1S2 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	AP2M1 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense
Green	AP3B1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP3B2 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP4B1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP4E1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP4E1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP4M1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP4S1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	APC2 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	APOA1 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	APOA5 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	APOB Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	APOC2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	APOE Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	APOPT1 Likely inborn error of metabolism - targeted testing not possible	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 - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	APRT Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	APTX DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	APTX Likely inborn error of metabolism - targeted testing not possible	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 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARCN1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ARF1 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARFGEF1 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARFGEF2 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARG1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARG1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARG1 Likely inborn error of metabolism - targeted testing not possible	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 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARHGAP31 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARHGEF9 Intellectual disability - microarray and sequencing	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	ARID1A Intellectual disability - microarray and sequencing	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 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARID1B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ARID2 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ARL13B Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL13B Ophthalmological ciliopathies	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	ARL3 Ophthalmological ciliopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ARL6 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL6 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL6 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL6 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL6 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARMC4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ARMC9 Intellectual disability - microarray and sequencing	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	ARMC9 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSA Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSA Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSB Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSB Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSB Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSE Likely inborn error of metabolism - targeted testing not possible	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	ARSE Limb disorders	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 Intellectual disability - microarray and sequencing	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	new-gene-name
Green	ARV1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARX Intellectual disability - microarray and sequencing	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 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASAH1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASAH1 Intellectual disability - microarray and sequencing	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 - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ASL Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASL DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASL Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASNS Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASPA Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASPA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASPA Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASPM DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASPM Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASS1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASS1 Likely inborn error of metabolism - targeted testing not possible	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 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ASXL1 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ASXL1 Limb disorders	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	ASXL2 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ASXL3 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ATAD1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	ATAD3A Intellectual disability - microarray and sequencing	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 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ATG7 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATIC DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATIC Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATIC Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATM Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATM DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATN1 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	ATP13A2 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP13A2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP13A2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP1A1 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATP1A2 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATP1A3 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ATP1A3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ATP2B1 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATP5A1 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ATP5D Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ATP5G3 Likely inborn error of metabolism - targeted testing not possible	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	new-gene-name
Green	ATP6AP1 Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ATP6AP2 Intellectual disability - microarray and sequencing	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ATP6V0A1 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ATP6V0A2 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP6V0A2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP6V0A2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP6V1A Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATP6V1B1 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP6V1B1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP6V1B2 Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATP6V1B2 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ATP7A Intellectual disability - microarray and sequencing	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 Skeletal dysplasia	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ATP7A Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ATP7B Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP8A2 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP8B1 Likely inborn error of metabolism - targeted testing not possible	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 - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATPAF2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATR Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATRX Intellectual disability - microarray and sequencing	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 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AUH Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AUTS2 Intellectual disability - microarray and sequencing	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 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GALNT2 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GALT6 Likely inborn error of metabolism - targeted testing not possible	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 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GAT3 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GLCT Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GLCT Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GLCT Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GLCT Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GALNT1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GALNT1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GALT1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GALT7 Likely inborn error of metabolism - targeted testing not possible	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 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B9D2 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B9D2 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B9D2 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B9D2 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BAAT Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS1 Limb disorders	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 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS10 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS10 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS10 Limb disorders	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 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS12 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS12 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS12 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS12 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS12 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS12 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS2 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS2 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS2 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS2 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS4 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS4 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS4 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS4 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS4 Renal ciliopathies	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 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS5 Limb disorders	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	BBS7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS7 Limb disorders	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 - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS7 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS9 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS9 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS9 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS9 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS9 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS9 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCAP31 Intellectual disability - microarray and sequencing	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	BCAP31 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	BCAS3 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCAT2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	BCKDHA Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCKDHA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCKDHA Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCKDHB Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCKDHB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCKDHB Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCKDK Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCKDK Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCL11A Intellectual disability - microarray and sequencing	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 - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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 Intellectual disability - microarray and sequencing	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 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCS1L Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCS1L Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCS1L Intellectual disability - microarray and sequencing	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 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	BHLHA9 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BHLHA9 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BICD2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	BICRA Intellectual disability - microarray and sequencing	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 - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BLOC1S1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	BMP1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BMP2 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	cnv
Green	BMP2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	cnv
Green	BMP2 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BMP4 Intellectual disability - microarray and sequencing	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 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BMPER DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BMPR1B DDG2P	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	BNC2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BOLA3 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BOLA3 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BPTF Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	BRAF Intellectual disability - microarray and sequencing	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 - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRCA1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRCA2 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRCA2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRD4 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	BRF1 Intellectual disability - microarray and sequencing	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 - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BRSK2 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	BRWD3 Intellectual disability - microarray and sequencing	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 - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BSND Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BSND DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BTD Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BTD Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BTD DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BUB1B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BUB1B Intellectual disability - microarray and sequencing	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 - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C12orf57 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C12orf65 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C12orf65 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C12orf65 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C19orf12 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	C19orf70 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C1QBP Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C21orf2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C21orf2 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C21orf2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C21orf2 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C2CD3 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C2CD3 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C2CD3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C2CD3 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C2CD3 Skeletal ciliopathies	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 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C5orf42 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C5orf42 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C5orf42 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C5orf42 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C5orf42 Neurological 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 - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CA5A Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CA8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CA8 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CABP2 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA1A Intellectual disability - microarray and sequencing	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA1B Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA1C Intellectual disability - microarray and sequencing	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 - microarray and sequencing	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA1E DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	watchlist
Green	CACNA1E Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CACNA1G Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	CACNA1I Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	CACNA2D1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CAD Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CAD DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CAMK2A Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	watchlist_moi
Green	CAMK2B Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CAMK4 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	gene-checked
Green	CAMTA1 Intellectual disability - microarray and sequencing	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 - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CARS Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	CARS2 Likely inborn error of metabolism - targeted testing not possible	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 - microarray and sequencing	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 Likely inborn error of metabolism - targeted testing not possible	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 - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CBS Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CBS Likely inborn error of metabolism - targeted testing not possible	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 - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CC2D2A Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CC2D2A Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CC2D2A Clefting	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	CC2D2A Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CC2D2A Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCBE1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCBE1 DDG2P	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 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC115 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC22 Intellectual disability - microarray and sequencing	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	CCDC32 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
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 - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	CCDC50 Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
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 - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCND2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CCND2 Intellectual disability - microarray and sequencing	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	CCNO DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDC14A Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDC42 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CDC45 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDC45 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDC6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDC6 Intellectual disability - microarray and sequencing	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 - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDH2 Paediatric disorders - additional genes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CDH2 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CDH23 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDH23 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDH3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDH3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDK10 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDK13 Intellectual disability - microarray and sequencing	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 - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CDK5RAP2 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDK8 Intellectual disability - microarray and sequencing	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 - microarray and sequencing	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 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	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	CDON Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CDON DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	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	CEACAM16 Monogenic hearing loss	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CELF2 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	CENPF Neurological ciliopathies	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 Intellectual disability - microarray and sequencing	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 - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP104 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP104 Intellectual disability - microarray and sequencing	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 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP120 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP135 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP152 Intellectual disability - microarray and sequencing	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	CEP250 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP290 Neurological 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 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP290 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP290 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP41 Intellectual disability - microarray and sequencing	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 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP41 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP55 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP55 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP57 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP57 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP78 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP83 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP83 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP83 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP85L Intellectual disability - microarray and sequencing	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 - microarray and sequencing	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 Likely inborn error of metabolism - targeted testing not possible	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 - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHD3 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHD4 Intellectual disability - microarray and sequencing	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 - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHD7 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHD7 Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHD7 Intellectual disability - microarray and sequencing	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	CHD8 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHKA Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHKB Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHKB Likely inborn error of metabolism - targeted testing not possible	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 - microarray and sequencing	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 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHRNG DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHST14 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHST14 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHST14 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHST14 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHST3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHST3 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHST3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHST6 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHSY1 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHSY1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHSY1 Skeletal dysplasia	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	CIB2 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CIC Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CISD2 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CISD2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CISD2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CIT Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CKAP2L Intellectual disability - microarray and sequencing	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 - microarray and sequencing	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Other	N/A
Green	CLCN4 Intellectual disability - microarray and sequencing	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	CLDN14 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLDN16 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLDN19 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLDN19 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	CLDN9 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN3 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN3 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN5 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN5 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN6 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN6 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN8 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN8 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLP1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	CLPB Intellectual disability - microarray and sequencing	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CLPB Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CLPB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLPP Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLPP Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLRN1 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLTC Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CNKSR2 Intellectual disability - microarray and sequencing	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	CNNM2 Intellectual disability - microarray and sequencing	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CNNM2 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CNOT1 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CNOT2 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CNOT3 Intellectual disability - microarray and sequencing	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 - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CNTNAP2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CNTNAP2 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COA6 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COA7 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COASY DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COASY Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COCH Monogenic hearing loss	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COG1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	watchlist
Green	COG4 Likely inborn error of metabolism - targeted testing not possible	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 - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG5 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG5 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG6 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG6 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG7 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG7 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG8 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG8 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG8 DDG2P	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 Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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 Monogenic hearing loss	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 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	COL1A1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	COL1A2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL2A1 Clefting	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL2A1 Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	COL4A1 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COL4A1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	COL4A2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	COL4A2 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	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 - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	new-gene-name
Green	COL4A4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL4A5 Monogenic hearing loss	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	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	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
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	COL9A1 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL9A2 Monogenic hearing loss	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 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COL9A3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	watchlist
Green	COLEC10 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COLEC11 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COLEC11 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COLEC11 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COLEC11 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COMP Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	nucleotide-repeat-expansion
Green	COMP DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	watchlist
Green	COPB2 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COPB2 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COQ2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ4 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ4 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ6 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ7 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ8A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ8A Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ8A Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ8B Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ9 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ9 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX10 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX10 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	COX10 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX14 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX15 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX15 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX15 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX20 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX6A1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX6B1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX6B1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX7B Likely inborn error of metabolism - targeted testing not possible	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 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	CP Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPE Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPOX Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CPS1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPS1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPT1A Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPT2 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CRADD Intellectual disability - microarray and sequencing	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 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CRB2 Neurological ciliopathies	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 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CREBBP DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CREBBP Intellectual disability - microarray and sequencing	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	CRYM Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CSDE1 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	CSF1R DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSGALNACT1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSGALNACT1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSNK1G1 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	CSNK2A1 Intellectual disability - microarray and sequencing	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 - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CSPP1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSPP1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSPP1 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSPP1 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSPP1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSPP1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSPP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSTB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	nucleotide-repeat-expansion
Green	CSTB Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	Other	nucleotide-repeat-expansion
Green	CTBP1 Intellectual disability - microarray and sequencing	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 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CTCF Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CTCF Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CTDP1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTDP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTH Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTNNA2 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTNNB1 Intellectual disability - microarray and sequencing	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 - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CTNS Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTNS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSA Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSA Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSA Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSC Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSC Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSD DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSD Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSD Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSK Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSK Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSK DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTU2 Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTU2 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CUBN Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CUL3 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CUL4B Intellectual disability - microarray and sequencing	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	CUL4B DDG2P	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 - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CUX2 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CWC27 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CWC27 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CWF19L1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CXorf56 Intellectual disability - microarray and sequencing	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, new-gene-name, gene-checked
Green	CYB5R3 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYC1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYC1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	CYC1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYFIP2 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CYP1B1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	CYP27A1 Likely inborn error of metabolism - targeted testing not possible	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 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	D2HGDH Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	D2HGDH Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DAG1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DAG1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	DARS Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	DARS DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	new-gene-name
Green	DARS Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	DARS2 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DARS2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DARS2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DBH Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DBT DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DBT Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DBT Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCAF17 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCHS1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCHS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCPS Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCX Intellectual disability - microarray and sequencing	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 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDB1 Intellectual disability - microarray and sequencing	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 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDC Intellectual disability - microarray and sequencing	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 - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDOST DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDR2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDR2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	DDX11 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX11 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	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	DDX3X Intellectual disability - microarray and sequencing	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	DDX59 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX59 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX59 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX59 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX59 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX6 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DEAF1 Intellectual disability - microarray and sequencing	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 - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DEPDC5 Intellectual disability - microarray and sequencing	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	DFNA5 Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	new-gene-name
Green	DFNB59 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	DGUOK Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR24 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR24 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR24 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR24 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHDDS Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DHFR Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHFR DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	DHFR Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHODH Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHODH Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	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	DHPS Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHTKD1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHTKD1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHX30 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DHX37 Intellectual disability - microarray and sequencing	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DIAPH1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DIAPH1 Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DIS3L2 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	non-coding-known-pathogenic, deletions
Green	DIS3L2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
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 - microarray and sequencing	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	DLAT Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DLAT DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DLD DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DLD Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DLD Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DLG3 Intellectual disability - microarray and sequencing	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 - microarray and sequencing	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 - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DLL3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DLL3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DLL4 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DLL4 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DLL4 DDG2P	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	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DMD DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	Skewed X-inactivation
Green	DMD Intellectual disability - microarray and sequencing	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	gene-therapy-trial, Skewed X-inactivation
Green	DMP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DMP1 Skeletal dysplasia	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_rating, Q3_21_MOI
Green	DMPK_CTG Likely inborn error of metabolism - targeted testing not possible STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	DMPK_CTG Intellectual disability - microarray and sequencing STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	DMXL2 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DMXL2 Monogenic hearing loss	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DNA2 Likely inborn error of metabolism - targeted testing not possible	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 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJC12 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJC19 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJC19 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJC5 Likely inborn error of metabolism - targeted testing not possible	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DNM1 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DNM1L Intellectual disability - microarray and sequencing	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	DNM1L Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DNM2 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DNMT1 Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DNMT3A Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	DNMT3A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	watchlist
Green	DNMT3A Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DNMT3B Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNMT3B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOCK3 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOCK6 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOCK6 Intellectual disability - microarray and sequencing	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	DOCK7 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOCK8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOLK DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	DOLK Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOLK Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPAGT1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPAGT1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPAGT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPAGT1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPF2 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	dominant-negative
Green	DPH1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM2 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM3 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPP6 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	deletions
Green	DPYD Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	pharmacogenetics
Green	DPYD Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPYS Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPYS Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPYSL5 Intellectual disability - microarray and sequencing	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	DSPP Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DSTYK DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	watchlist
Green	DTYMK Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DVL1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	DVL1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DVL1 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	DVL1 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DVL2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	gene-checked
Green	DVL3 Clefting	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DVL3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	DVL3 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DVL3 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DYM Likely inborn error of metabolism - targeted testing not possible	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	DYM Intellectual disability - microarray and sequencing	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 - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DYNC2H1 Clefting	BIALLELIC, autosomal or pseudoautosomal	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 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYNC2LI1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYNC2LI1 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYNC2LI1 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYRK1A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DYRK1A Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EARS2 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EARS2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EBF3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EBF3 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EBP Clefting	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	EBP Intellectual disability - microarray and sequencing	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 Likely inborn error of metabolism - targeted testing not possible	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 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	ECEL1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ECHS1 Likely inborn error of metabolism - targeted testing not possible	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	EDEM3 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EDN3 Monogenic hearing loss	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	EDNRA Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EDNRA DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	EDNRB DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	Q4_21_MOI
Green	EDNRB Monogenic hearing loss	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	EED Intellectual disability - microarray and sequencing	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 - microarray and sequencing	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 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EFTUD2 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EGR2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EHBP1L1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	EHMT1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EHMT1 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EIF2AK2 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	missense
Green	EIF2AK3 Intellectual disability - microarray and sequencing	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 - microarray and sequencing	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 - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF4A3 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF4A3 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	nucleotide-repeat-expansion
Green	EIF4A3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	EIF5A Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ELAC2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ELAC2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ELAC2 Intellectual disability - microarray and sequencing	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 - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ELP2 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EMC1 Intellectual disability - microarray and sequencing	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	EMC10 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EML1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EMX2 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ENO3 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ENPP1 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ENPP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EOGT Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EOGT Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EOGT DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EOGT Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EOGT Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EP300 Intellectual disability - microarray and sequencing	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 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPG5 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPG5 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPM2A Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPS8 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPS8L2 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERBB4 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ERCC1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC2 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC3 Intellectual disability - microarray and sequencing	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 - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC6 Intellectual disability - microarray and sequencing	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 - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC8 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERF DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ERF Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ERLIN2 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ESCO2 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ESCO2 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ESCO2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ESCO2 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ESCO2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ESPN Monogenic hearing loss	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ESRRB Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFA Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFA Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFB Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFB Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFDH Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFDH Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFDH DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETHE1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETHE1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETHE1 Intellectual disability - microarray and sequencing	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	EVC DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EVC Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EVC2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EVC2 DDG2P	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	EXOSC3 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXOSC3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	EXT1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EXT1 Likely inborn error of metabolism - targeted testing not possible	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	EXT2 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	EXT2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	watchlist_moi
Green	EXT2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EXT2 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXTL3 Intellectual disability - microarray and sequencing	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 Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EYA1 Clefting	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EYA4 Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EZH2 Intellectual disability - microarray and sequencing	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	FA2H Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAH Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAH DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAM111A Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FAM111A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	FAM111A Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FAM126A Intellectual disability - microarray and sequencing	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 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAM20C Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAM20C Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAM20C Intellectual disability - microarray and sequencing	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 - microarray and sequencing	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 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 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 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 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCD2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCE DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCE Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCF Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCF DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCG Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCG DDG2P	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 - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	to_be_confirmed_NHSE, Q2_21_expert_review, Q2_21_MOI
Green	FARS2 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FARS2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FARS2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FARSA Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FASTKD2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAT4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAT4 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBN1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FBN1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	watchlist
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 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBP1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBRSL1 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	FBXL3 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBXL4 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBXL4 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBXL4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBXO11 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FBXO11 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	watchlist
Green	FBXO28 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FBXO31 Intellectual disability - microarray and sequencing	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FBXW11 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FBXW7 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FDX2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FDXR Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FDXR Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FECH Likely inborn error of metabolism - targeted testing not possible	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 Intellectual disability - microarray and sequencing	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	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	FGF10 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FGF12 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	FGF12 Intellectual disability - microarray and sequencing	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	FGF3 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FGFR1 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FGFR1 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FGFR1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	mosaicism
Green	FGFR1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FGFR2 Likely inborn error of metabolism - targeted testing not possible	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FGFR2 Limb disorders	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 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	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	FGFR3 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FH Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FH DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FH Intellectual disability - microarray and sequencing	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 - microarray and sequencing	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 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKRP Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKTN Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKTN Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKTN DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FLAD1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FLAD1 Likely inborn error of metabolism - targeted testing not possible	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 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 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 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 Intellectual disability - microarray and sequencing	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 Skeletal dysplasia	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	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 - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FMN2 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FMO3 Likely inborn error of metabolism - targeted testing not possible	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 - microarray and sequencing	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 - microarray and sequencing 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 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FOLR1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FOXC1 DDG2P	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	FOXC2 Clefting	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 - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FOXI1 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	to_be_confirmed_NHSE, Q1_22_expert_review, Q1_22_MOI
Green	FOXL2 Paediatric disorders - additional genes	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FOXN1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FOXP1 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FOXP1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FOXP2 Intellectual disability - microarray and sequencing	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	FOXP4 Paediatric disorders - additional genes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	FOXRED1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FOXRED1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FOXRED1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FRAS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FRAS1 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FRAS1 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FREM1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FREM2 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FREM2 DDG2P	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 - microarray and sequencing	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 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	ngs-false-positive-region
Green	FTCD DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FTCD Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FTL DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FTSJ1 Intellectual disability - microarray and sequencing	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FTSJ1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FUCA1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FUCA1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FUCA1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FUCA1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FUT8 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FUT8 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FXN Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	nucleotide-repeat-expansion
Green	FXN_GAA Likely inborn error of metabolism - targeted testing not possible 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 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	G6PC3 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GAA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GAA Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GABBR2 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense
Green	GABRA1 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GABRA2 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense
Green	GABRA5 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GABRB2 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GABRB3 Intellectual disability - microarray and sequencing	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 - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	GABRG2 Likely inborn error of metabolism - targeted testing not possible	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GABRG2 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GAD1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALC Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALC DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALC Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALE DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALE Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALE Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALK1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALK1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALM Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALNS Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALNS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALNS Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALNT2 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALNT2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALNT3 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALNT3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALT DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALT Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALT Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GAMT Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GAMT Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GAMT DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GARS Likely inborn error of metabolism - targeted testing not possible	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	GATA3 Monogenic hearing loss	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 - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GATM Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GATM DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GATM Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GBA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	GBA Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	GBA2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GBE1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GCDH Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GCDH Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GCDH DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	GCH1 Intellectual disability - microarray and sequencing	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GCH1 Likely inborn error of metabolism - targeted testing not possible	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 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GDAP1 Likely inborn error of metabolism - targeted testing not possible	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	GDF11 Clefting	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GDF5 Limb disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GDF5 Skeletal dysplasia	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	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 - microarray and sequencing	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GEMIN5 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFAP Intellectual disability - microarray and sequencing	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 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFER Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFM1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFM1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFM1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFM2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFPT1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GGPS1 Monogenic hearing loss	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 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	GIPC3 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GJA1 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GJA1 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	watchlist
Green	GJA1 Limb disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GJA1 Skeletal dysplasia	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	GJB2 Monogenic hearing loss	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GJB3 Monogenic hearing loss	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	for-review, to_be_confirmed_NHSE
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 - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GK Intellectual disability - microarray and sequencing	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	GK Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GLA Likely inborn error of metabolism - targeted testing not possible	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 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLB1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLB1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLB1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLDC Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLDC DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLDC Likely inborn error of metabolism - targeted testing not possible	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 - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GLI2 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GLI2 DDG2P	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 Skeletal dysplasia	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 Skeletal 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 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GLI3 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GLI3 Ophthalmological ciliopathies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GLIS3 Intellectual disability - microarray and sequencing	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 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GLRA2 Intellectual disability - microarray and sequencing	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	Autism Spectrum Disorder
Green	GLRX5 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLS Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	STR, watchlist_moi
Green	GLUD1 Likely inborn error of metabolism - targeted testing not possible	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	GLUD1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	GLUL DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	GLUL Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLUL Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLYCTK Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	GLYCTK Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GM2A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GM2A Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GM2A Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPA Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPA Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPB Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPB DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	GMPPB Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNAI1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GNAI1 Intellectual disability - microarray and sequencing	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 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GNAO1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
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	GNAS Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	mosaicism
Green	GNB1 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GNB1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	GNB2 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GNB5 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNE Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GNMT Likely inborn error of metabolism - targeted testing not possible	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 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPAT Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPTAB Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPTAB Likely inborn error of metabolism - targeted testing not possible	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	GNPTG Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPTG Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPTG Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPTG DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNS Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNS Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNS Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GORAB Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GORAB Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GORAB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GPAA1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GPC3 Intellectual disability - microarray and sequencing	X-LINKED: hemizygous mutation in males, biallelic mutations in females	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 DDG2P	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	GPC4 Intellectual disability - microarray and sequencing	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 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GPHN Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GPSM2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GPSM2 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GPT2 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GREB1L Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	GREB1L Paediatric disorders - additional genes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	GRHL2 Monogenic hearing loss	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GRHL3 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GRHL3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GRHPR Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GRIA2 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GRIA3 Intellectual disability - microarray and sequencing	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 - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GRID2 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GRIK2 Intellectual disability - microarray and sequencing	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GRIK2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GRIN1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	GRIN1 Intellectual disability - microarray and sequencing	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GRIN2A Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GRIN2A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GRIN2B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GRIN2B Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GRIN2D Intellectual disability - microarray and sequencing	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 - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GRM6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GRXCR1 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GSC Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GSS Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GTF2E2 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GTF2H5 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GTF2H5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GTPBP2 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GTPBP3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GTPBP3 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GTPBP3 Likely inborn error of metabolism - targeted testing not possible	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 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GUSB Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GUSB Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GYG1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GYS1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GYS2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GZF1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	H3F3A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	new-gene-name
Green	H3F3A Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	new-gene-name
Green	H3F3B Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	new-gene-name
Green	HAAO Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	HAAO Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HACE1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HACE1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HADH DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HADH Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HADHA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HADHA Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HADHA Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HADHB Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HAMP Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HARS2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HARS2 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HAX1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HCCS Likely inborn error of metabolism - targeted testing not possible	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 - microarray and sequencing	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 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	HCFC1 Intellectual disability - microarray and sequencing	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	HCFC1 Likely inborn error of metabolism - targeted testing not possible	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	HCN1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	HCN1 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HDAC4 Intellectual disability - microarray and sequencing	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 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 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 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 Intellectual disability - microarray and sequencing	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	HEATR3 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HECW2 Intellectual disability - microarray and sequencing	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 - microarray and sequencing	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	HERC1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HERC2 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HES7 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HESX1 Intellectual disability - microarray and sequencing	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	HEXA Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HEXA Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HEXA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HEXB Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HEXB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HEXB Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HFE Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HFE2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	HGD Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HGSNAT Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HGSNAT Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HGSNAT DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HGSNAT Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HHAT Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HIBCH Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HIBCH Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HIBCH DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HID1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HINT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HIST1H1E Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	new-gene-name
Green	HIST1H4C Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	new-gene-name
Green	HIVEP2 Intellectual disability - microarray and sequencing	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 - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	missense
Green	HLCS Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HLCS Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HLCS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HMBS Likely inborn error of metabolism - targeted testing not possible	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HMGB1 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	HMGCL Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HMGCL Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HMGCL DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HMGCS2 Likely inborn error of metabolism - targeted testing not possible	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 - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HNRNPH1 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HNRNPH2 Intellectual disability - microarray and sequencing	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 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HNRNPK DDG2P	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	HNRNPR Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HNRNPU Intellectual disability - microarray and sequencing	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 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HOXA1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HOXA1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	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	HOXA13 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HOXA2 Monogenic hearing loss	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	HOXD13 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HPD Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	HPD Intellectual disability - microarray and sequencing	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	HPDL Intellectual disability - microarray and sequencing	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 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	HPRT1 Likely inborn error of metabolism - targeted testing not possible	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	HPRT1 Intellectual disability - microarray and sequencing	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 Likely inborn error of metabolism - targeted testing not possible	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 - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HS2ST1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HS2ST1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSD17B10 Likely inborn error of metabolism - targeted testing not possible	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	HSD17B10 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	HSD17B10 Intellectual disability - microarray and sequencing	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	HSD17B4 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSD17B4 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSD17B4 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSD17B4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSD3B7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSD3B7 Likely inborn error of metabolism - targeted testing not possible	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 Likely inborn error of metabolism - targeted testing not possible	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	HSPD1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
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 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HTRA2 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HUWE1 Intellectual disability - microarray and sequencing	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 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HYAL1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HYAL2 Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	HYAL2 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	HYDIN DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HYLS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	HYLS1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HYLS1 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HYLS1 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HYLS1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IARS Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	IARS Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	IARS2 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IBA57 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IBA57 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ICK Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ICK Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name, watchlist
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 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 Likely inborn error of metabolism - targeted testing not possible	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	IDH2 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	IDS Intellectual disability - microarray and sequencing	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	IDS Skeletal dysplasia	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	IDS Likely inborn error of metabolism - targeted testing not possible	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 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IDUA Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IDUA Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IER3IP1 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IER3IP1 Likely inborn error of metabolism - targeted testing not possible	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IER3IP1 Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFIH1 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	IFIH1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	watchlist
Green	IFIH1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	IFITM5 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	IFITM5 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	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	IFT122 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	IFT122 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT140 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT140 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT140 Clefting	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 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT172 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT172 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT172 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT172 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT172 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT172 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT172 Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT27 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT27 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT27 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT43 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	IFT43 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	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 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT80 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	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 - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IGF1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IGF1R Intellectual disability - microarray and sequencing	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 - microarray and sequencing	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 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	watchlist
Green	IL11RA Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IL1RAPL1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	IL1RAPL1 Intellectual disability - microarray and sequencing	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	ILDR1 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
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	IMPAD1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	IMPDH2 Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	INPP5E Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INPP5E Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INPP5E Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INPP5E Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INPP5E DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INPP5K Intellectual disability - microarray and sequencing	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INPPL1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INPPL1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INTS1 Intellectual disability - microarray and sequencing	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 - microarray and sequencing	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	IRF2BPL Intellectual disability - microarray and sequencing	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	IRF6 Clefting

Paediatric disorders (Version: 35.224.214.43)

Paediatric disorders (Version: )