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 13 panels:

DDG2P
Intellectual disability
Early onset or syndromic epilepsy
Likely inborn error of metabolism
Skeletal dysplasia
Monogenic hearing loss
Paediatric disorders - additional genes
Clefting
Ophthalmological ciliopathies
Neurological ciliopathies
Renal ciliopathies
Limb disorders
Skeletal ciliopathies

Signed off date: 7 Aug 2024

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

See this panel in PanelApp

2829 unique green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	AAAS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AAAS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AARS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	AARS Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	AARS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	AARS2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AASS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AASS Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AASS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABAT Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABAT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABAT Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABAT DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCA1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCA2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCB11 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCB11 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCB4 Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ABCB7 Likely inborn error of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ABCB7 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Other	N/A
Green	ABCC6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCC9 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ABCC9 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	Q1_24_MOI, Q1_24_NHS_review
Green	ABCC9 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ABCD1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	gene-therapy-trial
Green	ABCD1 Likely inborn error of metabolism	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ABCD1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ABCD4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCD4 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCD4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCG5 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCG8 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABHD12 Likely inborn error of metabolism	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	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABHD16A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABHD5 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABHD5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABHD5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABL1 Paediatric disorders - additional genes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	missense
Green	ABL1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ACACA Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACACA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACAD8 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACAD9 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACAD9 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACAD9 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADM Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADM Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADM DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADS DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	ACADS Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	ACADSB Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADVL Likely inborn error of metabolism	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	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACBD5 DDG2P	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	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACER3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACO2 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ACO2 Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ACO2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACOX1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACOX1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACOX1 Early onset or syndromic epilepsy	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	ACOX1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	watchlist_moi
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	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACSL4 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ACSL4 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	Skewed X-inactivation
Green	ACTA1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	ACTA2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ACTB Intellectual disability	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	ACTB DDG2P	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 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ACTG1 Clefting	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 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ACTG2 Paediatric disorders - additional genes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ACTL6A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	ACTL6B Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ACTL6B Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACTL6B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACVR1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ACVR1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ACVR2B Paediatric disorders - additional genes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ACY1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACY1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACY1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADA Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAM22 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAM22 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAMTS10 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAMTS17 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAMTS18 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	ADAMTS19 Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAMTS9 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	gene-checked
Green	ADAMTSL2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAMTSL2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAR Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ADAR Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAR DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ADAR Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ADARB1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADARB1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAT3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADCY5 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ADD1 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ADD3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADGRG1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADGRG1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADGRG1 Intellectual disability	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	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADNP Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ADNP DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ADPRHL2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ADPRHL2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ADSL Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADSL Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADSL Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADSL DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	AFF2 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	nucleotide-repeat-expansion
Green	AFF2 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Other	nucleotide-repeat-expansion
Green	AFF3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	missense
Green	AFF3 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	missense
Green	AFF3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	AFF3 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	AFF4 Intellectual disability	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	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGK DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGK Likely inborn error of metabolism	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	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGO1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	AGO1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	AGO1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	AGO2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	AGPS Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGPS Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGPS DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	AGT Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGTPBP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGTPBP1 DDG2P	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	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	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	AHCY Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	AHDC1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	AHDC1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	AHI1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AHI1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AHI1 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AHI1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AHI1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AIFM1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Other	N/A
Green	AIFM1 Likely inborn error of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	AIFM1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	AIFM1 Monogenic hearing loss	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	AIMP1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AIMP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AIMP1 DDG2P	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	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	AKT2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	AKT3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	mosaicism
Green	AKT3 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	AKT3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	mosaicism
Green	ALAD Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALAS2 Likely inborn error of metabolism	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ALDH18A1 Likely inborn error of metabolism	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	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH1A2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	ALDH1A3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH3A2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH3A2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH3A2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH4A1 Intellectual disability	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	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH5A1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH5A1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH5A1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH5A1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH6A1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH7A1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH7A1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH7A1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH7A1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	ALDOA DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	ALDOA Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDOB Likely inborn error of metabolism	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	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG11 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG11 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG11 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG11 Likely inborn error of metabolism	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	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG12 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG12 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG13 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ALG13 Early onset or syndromic epilepsy	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	ALG13 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Other	N/A
Green	ALG14 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG14 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG2 DDG2P	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	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG3 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG6 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG6 Intellectual disability	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	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG8 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG8 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG9 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG9 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG9 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG9 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG9 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALKBH8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALKBH8 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALKBH8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALMS1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALMS1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALMS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALMS1 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALMS1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALPL DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	ALPL Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALPL Likely inborn error of metabolism	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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	ALS2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALX1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALX1 Clefting	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	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AMER1 Skeletal dysplasia	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	AMER1 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	AMER1 Clefting	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	AMER1 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	AMN Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AMOTL1 Clefting	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	AMOTL1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	gene-checked
Green	AMPD2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AMPD2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AMPD2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AMT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AMT Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AMT Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AMT DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANAPC1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANAPC1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANK2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ANK3 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ANKH Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ANKH DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ANKRD11 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 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ANKRD11 Clefting	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ANKRD11 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ANKRD17 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ANKRD17 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ANKRD26 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ANKS6 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANO10 Likely inborn error of metabolism	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	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ANOS1 Paediatric disorders - additional genes	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ANTXR1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANTXR2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP1G1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	AP1G1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	AP1G1 Early onset or syndromic epilepsy	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	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP1S2 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	AP1S2 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	AP2M1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	AP2M1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	missense
Green	AP2M1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense
Green	AP2S1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	AP3B1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP3B2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP3B2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP3B2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP4B1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP4B1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP4E1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP4E1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP4M1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP4M1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP4S1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP4S1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	APC2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	APC2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	APC2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	APOA1 Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	APOA5 Likely inborn error of metabolism	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	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	APOC2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	APOE Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	APOPT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	APOPT1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	APOPT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	APRT Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	APTX Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	APTX DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AR DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ARCN1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ARCN1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARCN1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ARF1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ARF1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARF1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARF3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	ARF3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	gene-checked, de novo
Green	ARF3 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	ARFGEF1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARFGEF1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARFGEF1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ARFGEF2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARFGEF2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARFGEF2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARG1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARG1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARG1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARG1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARHGAP29 Clefting	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	ARHGAP31 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ARHGAP31 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ARHGAP31 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARHGAP31 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARHGAP35 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	ARHGEF9 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ARHGEF9 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	ARHGEF9 Early onset or syndromic epilepsy	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	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	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARID1B Early onset or syndromic epilepsy	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	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ARID2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ARL13B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL13B Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL13B Ophthalmological 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	ARL3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	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 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL6 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL6 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARMC4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ARMC9 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARMC9 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARMC9 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARMC9 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARPC4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ARSA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSA Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSB Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSB Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSE Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	new-gene-name
Green	ARSE Limb disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	new-gene-name
Green	ARSE Skeletal dysplasia	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	new-gene-name
Green	ARSE Likely inborn error of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	new-gene-name
Green	ARSE DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	new-gene-name
Green	ARV1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARV1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARX Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	nucleotide-repeat-expansion
Green	ARX Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ARX DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ASAH1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASAH1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASAH1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASAH1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASCC1 Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASH1L Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ASH1L DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ASH1L Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ASL Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASL Early onset or syndromic epilepsy	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	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASNS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASNS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASNS Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASPA Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASPA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASPA Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASPA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASPH DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASPM Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASPM DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASS1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASS1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASXL1 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ASXL1 Intellectual disability	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	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	ASXL2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ASXL2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ASXL2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ASXL3 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ASXL3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ASXL3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATAD1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	ATAD3A Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ATAD3A DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ATAD3A Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ATG7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATG7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATIC Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATIC Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATIC DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATL1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATM DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATM Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATN1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	ATN1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	ATN1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ATN1_CAG Early onset or syndromic epilepsy STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATP13A2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP13A2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP13A2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP1A1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATP1A1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATP1A1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ATP1A2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATP1A2 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ATP1A2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATP1A3 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ATP1A3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ATP1A3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ATP2B1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATP2B1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATP5A1 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	new-gene-name
Green	ATP5A1 Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ATP5D DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	new-gene-name
Green	ATP5D Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ATP5E Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ATP5G3 Likely inborn error of metabolism	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	new-gene-name
Green	ATP5O Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ATP5O Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ATP6AP1 Likely inborn error of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ATP6AP2 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ATP6V0A1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	watchlist_moi
Green	ATP6V0A1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ATP6V0A1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ATP6V0A2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP6V0A2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP6V0A2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP6V0A2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP6V0C Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ATP6V0C Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ATP6V0C DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATP6V1A DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	ATP6V1A Early onset or syndromic epilepsy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ATP6V1A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATP6V1B1 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP6V1B1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP6V1B2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ATP6V1B2 Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATP6V1B2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ATP6V1E1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	ATP7A Skeletal dysplasia	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 Likely inborn error of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ATP7A Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ATP7A Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ATP7B Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP8A2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP8B1 Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ATP8B1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP9A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP9A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATPAF2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATR DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATR Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATRX Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ATRX Early onset or syndromic epilepsy	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	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AUH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AUTS2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	AUTS2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	AXIN1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GALNT2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GALNT2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GALNT2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GALT6 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GALT6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GALT6 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GAT3 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GAT3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GLCT Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GLCT Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GLCT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GLCT Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GALNT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GALNT1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GALT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GALT1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GALT7 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GALT7 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GALT7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GALT7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B9D1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B9D2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B9D2 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B9D2 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B9D2 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BAAT Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BANF1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	BAP1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BAP1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	BAP1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS1 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS10 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS10 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS10 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS10 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS10 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS10 Skeletal dysplasia	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	BBS12 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS12 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS12 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS12 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS2 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS2 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS2 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS4 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS4 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS4 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS4 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS5 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS5 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS5 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS5 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS7 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS7 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS7 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS7 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS9 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS9 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS9 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS9 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS9 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS9 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCAP31 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	BCAP31 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	BCAS3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCAS3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCAT2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	BCKDHA Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCKDHA Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCKDHA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCKDHA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCKDHB Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCKDHB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCKDHB Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCKDHB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCKDK Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCKDK Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCL11A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BCL11A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	BCL11B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BCL11B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BCOR 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	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 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCS1L DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCS1L Early onset or syndromic epilepsy	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	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	N/A
Green	BHLHA9 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BHLHA9 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BHLHA9 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	BICD2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	BICRA Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	BICRA DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BIN1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BLM DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BLM Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BLOC1S1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	BLOC1S6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BMP1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BMP2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	cnv
Green	BMP2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BMP2 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	cnv
Green	BMP2 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BMP4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BMP4 DDG2P	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	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 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BOLA3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BOLA3 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BOLA3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BPTF DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BPTF Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	BRAF DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	BRAF Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	BRAF Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	BRAT1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRAT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRAT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRCA1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRCA2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRCA2 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRD4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BRD4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BRF1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRF1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRIP1 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRIP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRPF1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BRPF1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BRSK2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	BRSK2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	BRWD3 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	BRWD3 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	BSCL2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BSCL2 Early onset or syndromic epilepsy	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 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BTD DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BTD Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BTD Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BUB1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BUB1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BUB1B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BUB1B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C11orf70 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name, gene-checked
Green	C12orf4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C12orf57 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C12orf57 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C12orf57 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	C12orf65 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C12orf65 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C12orf65 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C19orf12 Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	C19orf70 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C1QBP DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	C1QBP Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C21orf2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C21orf2 Ophthalmological ciliopathies	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	C21orf59 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C2CD3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C2CD3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C2CD3 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C2CD3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C2CD3 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C2CD3 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C2orf69 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	C2orf69 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
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 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C5orf42 Neurological 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 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C5orf42 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C5orf42 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C8orf37 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C8orf37 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	CA2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CA2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CA2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CA5A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CA5A Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CA8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CA8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CABP2 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA1A Early onset or syndromic epilepsy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA1A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CACNA1A Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA1B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA1B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA1B Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA1C Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CACNA1C Early onset or syndromic epilepsy	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 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA1D Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA1D Early onset or syndromic epilepsy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	CACNA1E Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CACNA1E DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CACNA1E Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CACNA1G DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CACNA1G Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	CACNA1G Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	missense
Green	CACNA1I Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	CACNA1I Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	CACNA2D1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA2D2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CAD Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CAD Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CAD DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CAMK2A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CAMK2A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	watchlist_moi
Green	CAMK2B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CAMK2B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CAMK2G DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CAMK4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	gene-checked
Green	CAMSAP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CAMTA1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CAMTA1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CANT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CANT1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CAPN15 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CAPRIN1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CAPRIN1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CAPRIN1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CARS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	CARS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	CARS2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CARS2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CARS2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CASK DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	CASK Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	CASK Early onset or syndromic epilepsy	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	CASP2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	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	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CBL DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CBL Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CBS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CBS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CBS Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CBY1 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	CC2D1A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CC2D1A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CC2D2A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CC2D2A Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CC2D2A Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CC2D2A Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CC2D2A Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CC2D2A Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CC2D2A Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CC2D2A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCBE1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCBE1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC103 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC114 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	CCDC115 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC115 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC151 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	CCDC22 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Other	N/A
Green	CCDC22 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	CCDC32 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	CCDC32 Intellectual disability	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 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	CCDC47 Intellectual disability	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	CCDC78 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CCDC8 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC82 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	CCDC88C DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC88C Intellectual disability	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	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	CD151 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDC14A Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDC42 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CDC42 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CDC45 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDC45 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDC6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDC6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDH1 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CDH1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CDH11 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDH11 Intellectual disability	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 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CDH2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CDH23 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDH23 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDH3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDH3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDK10 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDK13 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CDK13 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CDK16 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	gene-checked
Green	CDK19 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CDK19 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CDK19 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CDK5RAP2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDK5RAP2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDK8 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CDK8 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CDKL5 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	CDKL5 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	CDKL5 Early onset or syndromic epilepsy	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 Clefting	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	N/A	N/A
Green	CDKN1C DDG2P	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	N/A	N/A
Green	CDKN1C Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	N/A	N/A
Green	CDON DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CDON Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CDT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDT1 Skeletal dysplasia	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	CDX2 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	CEACAM16 Monogenic hearing loss	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CELF2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	CELF2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CELF2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CENPF Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	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 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CENPF DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CENPF Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CENPJ DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CENPJ Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP104 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP104 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP104 Ophthalmological 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	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP120 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP135 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP135 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP152 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP152 Intellectual disability	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 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP290 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP290 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP290 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP290 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP290 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP41 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP41 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP41 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP41 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP41 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP55 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP55 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP57 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP57 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP63 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	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 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	CEP85L Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	CEP85L DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	CERS1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
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	CFC1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CFL2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	CHAMP1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHAMP1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHCHD10 Likely inborn error of metabolism	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHD1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHD2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHD2 Early onset or syndromic epilepsy	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	CHD3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CHD3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHD4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHD4 Early onset or syndromic epilepsy	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 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHD5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHD7 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHD7 Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHD7 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHD7 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHD8 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHD8 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHKA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHKA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHKA Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHKB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHKB Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHM DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	CHMP1A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHMP1A DDG2P	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	CHRNA1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHRNA2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHRNA3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	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	CHRNA4 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHRNB1 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CHRNB2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CHRNB2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	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 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHST14 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHST14 DDG2P	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	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	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	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	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CIC Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CIC DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CISD2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CISD2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CISD2 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CIT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CIT DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	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	CKAP2L Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLCN3 Intellectual disability	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Other	N/A
Green	CLCN3 Early onset or syndromic epilepsy	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Other	N/A
Green	CLCN3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CLCN4 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	CLCN4 Early onset or syndromic epilepsy	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	CLCN4 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Other	N/A
Green	CLCN5 Skeletal dysplasia	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	CLCN6 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CLCN6 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	de novo
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	CLCNKB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLDN11 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CLDN14 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLDN16 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLDN19 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLDN19 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	CLDN5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	CLDN5 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	CLDN9 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLMP DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN3 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN3 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN5 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN6 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN8 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN8 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	founder-effect
Green	CLP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	CLPB Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CLPB Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CLPB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLPB Early onset or syndromic epilepsy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CLPP Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLPP Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLPP DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	CLRN1 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLTC Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CLTC Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CLTC DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CNKSR2 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	CNKSR2 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	CNKSR2 Early onset or syndromic epilepsy	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	CNNM2 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CNNM2 Early onset or syndromic epilepsy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CNNM2 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CNNM2 Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CNOT1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CNOT1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CNOT2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CNOT3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CNOT3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CNOT9 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	CNOT9 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	CNPY3 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CNPY3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CNTNAP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CNTNAP1 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CNTNAP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CNTNAP2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CNTNAP2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CNTNAP2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COA6 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COA7 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COASY Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COASY DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COCH Monogenic hearing loss	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COG1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG4 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COG4 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG4 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	COG4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG5 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG6 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG7 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG7 Likely inborn error of metabolism	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	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL10A1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	COL10A1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COL11A1 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL11A1 DDG2P	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 Monogenic hearing loss	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 Skeletal dysplasia	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	COL13A1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL18A1 Early onset or syndromic epilepsy	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	COL25A1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL27A1 DDG2P	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	COL2A1 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	COL2A1 DDG2P	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	COL4A1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	COL4A1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COL4A1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	COL4A2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	COL4A2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COL4A2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	COL4A3 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL4A3BP DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	new-gene-name
Green	COL4A3BP Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	new-gene-name
Green	COL4A4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	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	COL6A2 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	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 Monogenic hearing loss	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL9A1 Clefting	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 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	COL9A3 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COLEC10 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
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	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	COPB2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	COPB2 Intellectual disability	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	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ4 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ4 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ6 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ7 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ8A Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ8A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ8A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ8B Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ9 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ9 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ9 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX10 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	COX10 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX10 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX11 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX14 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX15 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX15 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX15 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX16 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	COX20 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX5A Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX6A1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX6B1 Likely inborn error of metabolism	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	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	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPAMD8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPE Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPLX1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPLX1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPOX Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CPS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPS1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPS1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPSF3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	CPT1A Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPT2 Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CRADD Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CRB1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CRB2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CRB2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CRB2 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CRB2 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CREB3L1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CREBBP DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CREBBP Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CREBBP Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CREBBP Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CRELD1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CRELD1 Early onset or syndromic epilepsy	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Other	N/A
Green	CRLS1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	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	CRYBB1 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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	N/A
Green	CRYM Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CSDE1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	CSF1R DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSGALNACT1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSGALNACT1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSNK1G1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	CSNK2A1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CSNK2A1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CSNK2B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CSNK2B DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CSNK2B Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CSPP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSPP1 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSPP1 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSPP1 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSPP1 Neurological 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	CSTA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSTB Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	nucleotide-repeat-expansion
Green	CSTB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	nucleotide-repeat-expansion
Green	CSTB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	Other	nucleotide-repeat-expansion
Green	CSTB_CCCCGCCCCGCG Early onset or syndromic epilepsy STR	BIALLELIC, autosomal or pseudoautosomal	N/A	STR
Green	CTBP1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CTBP1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	missense
Green	CTC1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTCF DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CTCF Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CTCF Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CTDP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTDP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTH Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTNNA2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTNNA2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTNNA2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTNNB1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CTNNB1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CTNND1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CTNND1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CTNND1 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CTNND2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	CTNS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTNS Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTR9 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
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 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSC Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSC Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSD Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSD DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSD Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSD Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSF Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSK Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSK Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSK DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTU2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTU2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTU2 Paediatric disorders - additional genes	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CUBN Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CUL3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CUL3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CUL3 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CUL4B Early onset or syndromic epilepsy	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	CUL4B Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	CUL7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CUL7 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CUX1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CUX2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CUX2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CUX2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CWC27 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CWC27 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CWF19L1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CXorf56 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	Skewed X-inactivation, new-gene-name, gene-checked
Green	CYB5R3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYB5R3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYC1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYC1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	CYC1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYFIP2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CYFIP2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CYFIP2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CYP1B1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	CYP27A1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP27A1 DDG2P	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	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	D2HGDH Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	D2HGDH Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	D2HGDH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DAG1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DAG1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	DAGLA Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	DARS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	DARS DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	new-gene-name
Green	DARS Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	DARS2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DARS2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DARS2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DAW1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	DBH Likely inborn error of metabolism	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	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DBT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DBT Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCAF17 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCC DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCDC2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCHS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCHS1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCPS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCX Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	DCX Early onset or syndromic epilepsy	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	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDB1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	DDB1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DDB2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDC Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDC DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDC Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDC Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDHD1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDHD2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDHD2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDOST DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDR2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDR2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	DDRGK1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX11 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX11 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX23 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	DDX23 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	gene-checked
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	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	loss-of-function (truncating variants and curated list of variants)	N/A
Green	DDX3X Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	DDX59 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX59 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX59 Ophthalmological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX59 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX59 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	DDX59 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX6 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	DDX6 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DEAF1 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DEAF1 Early onset or syndromic epilepsy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DEAF1 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	DEGS1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DEGS1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DEGS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DENND5A Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DENND5A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DEPDC5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DEPDC5 Early onset or syndromic epilepsy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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	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 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR24 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7 Renal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHDDS Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DHDDS Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DHDDS DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	DHFR Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHFR DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	DHFR Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHODH Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHODH DDG2P	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	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHPS DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	DHPS Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHPS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHTKD1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHTKD1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHTKD1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHX30 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	DHX30 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DHX30 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DHX37 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	Q1_24_MOI, Q1_24_NHS_review
Green	DHX9 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	DIAPH1 Intellectual disability	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	DIAPH1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DIS3L2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	non-coding-known-pathogenic, deletions
Green	DIS3L2 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DIS3L2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DKC1 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	DKC1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	DLAT DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DLAT Likely inborn error of metabolism	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	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DLD Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DLG3 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	DLG3 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	DLG4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DLG4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	microduplication
Green	DLG5 Renal ciliopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DLL1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DLL1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DLL3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DLL3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DLL4 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DLL4 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 Limb disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DLX5 Skeletal dysplasia	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	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	gene-therapy-trial, Skewed X-inactivation
Green	DMP1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DMP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DMPK_CTG Intellectual disability STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	DMPK_CTG Likely inborn error of metabolism STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	DMPK_CTG DDG2P STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	DMXL2 Monogenic hearing loss	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DMXL2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DMXL2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNA2 Likely inborn error of metabolism	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DNAAF3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAAF4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAAF5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	DNAH5 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	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJC12 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJC12 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJC19 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJC19 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJC5 Likely inborn error of metabolism	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DNAJC6 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNM1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DNM1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	watchlist_moi
Green	DNM1 DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	DNM1L Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DNM1L DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	DNM1L Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	DNM1L Early onset or syndromic epilepsy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DNM2 Likely inborn error of metabolism	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	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	DNMT3A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DNMT3A Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DNMT3B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNMT3B DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOCK3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOCK6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOCK6 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOCK6 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOCK6 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOCK6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOCK7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOCK7 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOCK7 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOCK8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOHH DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOHH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOLK Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOLK DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	DOLK Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOLK Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPAGT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPAGT1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPAGT1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPAGT1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPAGT1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPF2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	DPF2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	dominant-negative
Green	DPH1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPH5 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPH5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPH5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM3 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPYD Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPYD Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	pharmacogenetics
Green	DPYD Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPYS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPYS Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPYSL5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DPYSL5 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	DRC1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DROSHA Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	gene-checked, locus-type-rna-micro
Green	DSG1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DSP DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	DSPP Monogenic hearing loss	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DSPP DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DSTYK DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DTYMK Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DTYMK Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DVL1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DVL1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	DVL1 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	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 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	DVL3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	DYM DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYM Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYM Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYM Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYNC1H1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DYNC1H1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DYNC1H1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	DYNC1I2 DDG2P	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 Clefting	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 Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYNC2LI1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYNC2LI1 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYRK1A Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DYRK1A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DYRK1A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EARS2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EARS2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EARS2 Intellectual disability	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	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EBP Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	EBP Clefting	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	EBP Limb disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	EBP Likely inborn error of metabolism	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	EBP 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 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	ECEL1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ECHS1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ECHS1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ECM1 DDG2P	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	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EDEM3 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EDEM3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EDN1 DDG2P	BOTH monoallelic and 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	N/A
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	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	EED DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	EEF1A2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	EEF1A2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EEF1A2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	EFEMP2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	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	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	EFTUD2 Early onset or syndromic epilepsy	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	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EFTUD2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EFTUD2 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EFTUD2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EGR2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EHBP1L1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	EHMT1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EHMT1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EHMT1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EIF2AK2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	missense
Green	EIF2AK2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	EIF2AK3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2AK3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2AK3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B3 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B4 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B5 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2S3 Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	EIF2S3 Clefting	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	EIF2S3 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	EIF2S3 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	EIF3F DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF3F Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF3F Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF4A2 Early onset or syndromic epilepsy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	EIF4A2 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	EIF4A3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	nucleotide-repeat-expansion
Green	EIF4A3 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF4A3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	EIF5A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EIF5A DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ELAC2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ELAC2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ELAC2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ELMO2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ELN DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ELOVL4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ELOVL4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ELP2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EMC1 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	EMC1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EMC10 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EMC10 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EMC10 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EMG1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	EML1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EML1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EMX2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ENO3 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ENPP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ENPP1 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ENTPD1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ENTPD1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EOGT Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EOGT Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EOGT 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	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EP300 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EP300 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EPCAM DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPG5 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPG5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPG5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPG5 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPG5 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPM2A Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPM2A Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPRS DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
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	ERBB3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	ERBB4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ERCC1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC4 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC6L2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC6L2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERF 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	ERI1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	ERI1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERLIN2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ESAM Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ESAM Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ESCO2 Skeletal dysplasia	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 Clefting	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ESCO2 Intellectual disability	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	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	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFB Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFB DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFDH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFDH Likely inborn error of metabolism	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	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETHE1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETHE1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETHE1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EVC Skeletal ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EVC Neurological 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 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EVC2 Skeletal dysplasia	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	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXOSC3 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXOSC3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	EXOSC9 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXPH5 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXT1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EXT1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EXT1 Likely inborn error of metabolism	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EXT2 Likely inborn error of metabolism	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 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXT2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXTL3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXTL3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXTL3 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	EYA1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
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	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EZH2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EZH2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	FA2H Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAH Likely inborn error of metabolism	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	FAM126A DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	FAM126A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	FAM149B1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
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	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAM46A Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	FAM50A Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	FAM58A DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	new-gene-name
Green	FAM58A Limb disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	new-gene-name
Green	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	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 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCC DDG2P	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 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCE DDG2P	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 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCG Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCI Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCI DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCL DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCL Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FANCM DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAR1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAR1 Early onset or syndromic epilepsy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FAR1 Intellectual disability	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	FARS2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FARS2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FARS2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FARS2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FARSA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FASTKD2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FASTKD2 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAT4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAT4 DDG2P	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	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FBN2 Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FBN2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	FBP1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBP1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBRSL1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	FBXL3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBXL4 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBXL4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBXL4 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBXL4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBXO11 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FBXO11 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FBXO11 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FBXO28 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	FBXO28 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FBXO28 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FBXO31 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FBXW11 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FBXW11 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FBXW11 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	FBXW11 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FBXW7 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FBXW7 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	FDX2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FDXR Likely inborn error of metabolism	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	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FERMT3 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FEZF1 DDG2P	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	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 DDG2P	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 Limb disorders	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 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FGF12 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	FGF13 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Other	N/A
Green	FGF13 Early onset or syndromic epilepsy	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	FGF14 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	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	FGF9 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FGF9 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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	FGFR1 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FGFR2 Clefting	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FGFR2 Limb disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FGFR2 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FGFR2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	FGFR2 Likely inborn error of metabolism	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	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	FGFR3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	FGFR3 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FH DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FH Likely inborn error of metabolism	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 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FIG4 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FIG4 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FIG4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FILIP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKBP10 DDG2P	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 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKRP DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKRP Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKTN Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKTN Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKTN DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKTN Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FLAD1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FLAD1 DDG2P	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 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	mosaicism
Green	FLNA Limb disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	FLNA 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 Early onset or syndromic epilepsy	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	FLNB Clefting	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FLNB DDG2P	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FLNB Skeletal dysplasia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FLT4 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	FLVCR1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	FLVCR2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FLVCR2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FMN2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FMN2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FMO3 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FMR1 DDG2P	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	FMR1 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Other	nucleotide-repeat-expansion
Green	FMR1_CGG Intellectual disability STR	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	STR
Green	FN1 Skeletal dysplasia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	FN1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	FOLR1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FOLR1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FOLR1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FOLR1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FOXC1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FOXC2 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 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FOXG1 Intellectual disability	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
Green	FOXI3 Paediatric disorders - additional genes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FOXJ1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FOXL2 Paediatric disorders - additional genes	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FOXL2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FOXN1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FOXP1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FOXP1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FOXP2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FOXP2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FOXP3 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FOXP4 Paediatric disorders - additional genes	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	FOXRED1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FOXRED1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FOXRED1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FOXRED1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FRA10AC1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FRAS1 Clefting	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	FREM1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FREM2 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FREM2 Limb disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FRMD5 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	de novo
Green	FRMD5 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FRMD5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FRMPD4 DDG2P	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FRMPD4 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	FRRS1L Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FRRS1L DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FTCD DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FTCD Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FTCD Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	ngs-false-positive-region
Green	FTL DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FTSJ1 Intellectual disability	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 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FUCA1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FUCA1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FUCA1 Skeletal dysplasia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FUCA1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FUK DDG2P	BIALLELIC, autosomal or pseudoautosomal	Other	new-gene-name
Green	FUT8 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FUT8 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FUT8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FUT8 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FXN Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	nucleotide-repeat-expansion
Green	FXN_GAA Likely inborn error of metabolism STR	BIALLELIC, autosomal or pseudoautosomal	N/A	STR
Green	FXR1 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
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	FZD5 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	FZD6 DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FZR1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	G6PC Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	G6PC3 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GAA Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GAA DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GABBR1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	GABBR2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GABBR2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense
Green	GABBR2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	GABRA1 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GABRA1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GABRA1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GABRA2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense
Green	GABRA2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense
Green	GABRA5 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense
Green	GABRA5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GABRB1 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GABRB2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GABRB2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GABRB2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	GABRB3 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	GABRB3 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GABRB3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GABRD Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	GABRD Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	GABRG2 Early onset or syndromic epilepsy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GABRG2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GABRG2 Likely inborn error of metabolism	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GABRG2 DDG2P	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GAD1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GAD1 Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALC Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALC DDG2P	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALC Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALC Early onset or syndromic epilepsy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Paediatric disorders (Version: 52.545.235.224.214.43)

Paediatric disorders (Version: )