Genomics England

Hypotonic infant (Version: )

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

Relevant disorders: Floppy infant with a likely central cause, Hypotonic infant with a likely central cause, R69

This panel contains these 9 panels:

Intellectual disability
Likely inborn error of metabolism
Rhabdomyolysis and metabolic muscle disorders
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Congenital myopathy
Distal myopathies
Congenital myaesthenic syndrome
Paediatric motor neuronopathies
Congenital muscular dystrophy

Signed off date: 7 Aug 2024

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

See this panel in PanelApp

1989 unique green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	AAAS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AARS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	AARS2 Likely inborn error of metabolism	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 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	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 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	ABCC9 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	Q1_24_MOI, Q1_24_NHS_review
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	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	ABHD16A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABHD5 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABHD5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABHD5 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	ACACA Likely inborn error of metabolism	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 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACAD9 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACAD9 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADM Rhabdomyolysis and metabolic muscle disorders	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 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	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 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADVL Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADVL Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACAT1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACER3 Intellectual disability	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	ACOX1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACOX1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	watchlist_moi
Green	ACSF3 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACSL4 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	Skewed X-inactivation
Green	ACTA1 Congenital myopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ACTA1 Distal myopathies	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	ACTB Intellectual disability	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	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	ACTN2 Congenital myopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ACY1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACY1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADA Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAM22 Intellectual disability	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 Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ADARB1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAT3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	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 Intellectual disability	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	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	ADSSL1 Distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ADSSL1 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	Other	new-gene-name
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	AFF4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	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 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGA Likely inborn error of metabolism	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 Rhabdomyolysis and metabolic muscle disorders	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	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	AGRN Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGTPBP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGXT Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AHCY Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	AHCY Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	AHDC1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	AHI1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	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	AIMP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AKR1D1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	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 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH18A1 Likely inborn error of metabolism	BOTH monoallelic and 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 Likely inborn error of metabolism	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	ALDH6A1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH7A1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH7A1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDOA Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	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 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG11 Intellectual disability	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 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG12 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG13 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ALG14 Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG14 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG2 Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG3 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG6 Intellectual disability	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 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	ALG9 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG9 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALKBH8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALMS1 Intellectual disability	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	AMACR Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	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	AMPD1 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AMPD2 Intellectual disability	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 Intellectual disability	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	ANKRD11 Intellectual disability	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	ANO10 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANO5 Distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANO5 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANO5 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP1G1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	AP1S1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP1S2 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	AP2M1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense
Green	AP3B1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP3B2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP4B1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP4E1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP4M1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP4S1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	APC2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	APOA1 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 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	AR_CAG Distal myopathies 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	AR_CAG Congenital myopathy 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	AR_CAG Paediatric motor neuronopathies 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	ARCN1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARF1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARF3 Intellectual disability	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	ARFGEF2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARG1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARG1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
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	ARID1A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARID1B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARID2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ARL13B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARMC9 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSA Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSA Intellectual disability	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 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSE Likely inborn error of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	new-gene-name
Green	ARSE Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	new-gene-name
Green	ARV1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARX Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	nucleotide-repeat-expansion
Green	ASAH1 Paediatric motor neuronopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASAH1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASAH1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASCC3 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASH1L Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ASL Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASL Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASNS Intellectual disability	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 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASPM Intellectual disability	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 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASXL1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ASXL2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ASXL3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ATAD1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	ATAD3A Likely inborn error of metabolism	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	ATIC Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATIC Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATM Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATN1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	ATP13A2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP13A2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP1A1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATP1A2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATP1A3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ATP2B1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATP5A1 Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	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	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 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ATP6V0A2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP6V0A2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP6V0C Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ATP6V1A Intellectual disability	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	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	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	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 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	AUH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AUH Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AUTS2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	B3GALNT2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GALNT2 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GALNT2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GALT6 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GAT3 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GLCT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GLCT Likely inborn error of metabolism	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 Likely inborn error of metabolism	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 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GAT1 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B9D2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BAAT Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BAG3 Distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	BAG3 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	BAP1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BBS1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS10 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS12 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS9 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCAP31 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	BCAS3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCAT2 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 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 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 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	BCL11B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BCOR Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	BCS1L Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCS1L Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BICD2 Paediatric motor neuronopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	BICRA Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	BIN1 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	watchlist_moi
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	BMP4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BOLA3 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BOLA3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BPTF Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	BRAF Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	BRAT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	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	BRPF1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BRSK2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	BRWD3 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	BSCL2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BTD Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BTD Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BUB1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BUB1B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C12orf4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C12orf57 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C12orf65 Likely inborn error of metabolism	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 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C2CD3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C2orf69 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	C5orf42 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	CA2 Intellectual disability	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 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA1A Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA1B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA1C Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CACNA1D Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA1E Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CACNA1G Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	CACNA1I Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	CACNA1S Rhabdomyolysis and metabolic muscle disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CACNA1S Congenital myopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA2D1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CAD Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CAMK2A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	watchlist_moi
Green	CAMK2B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CAMK4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	gene-checked
Green	CAMTA1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CAPN15 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CAPN3 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	Q2_23_MOI
Green	CAPRIN1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CARS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	CARS2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	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	CASP2 Intellectual disability	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	CAV3 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CAV3 Rhabdomyolysis and metabolic muscle disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CAVIN1 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CBL Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CBS Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CBS Intellectual disability	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	CCBE1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC115 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC22 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	CCDC32 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	CCDC47 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	CCDC78 Congenital myopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	Q4_22_demote_amber, Q4_22_expert_review
Green	CCDC82 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	CCDC88C Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCND2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CDC42 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CDC6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDH11 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDH2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	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	CDK16 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	gene-checked
Green	CDK19 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CDK5RAP2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDK8 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	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	CDON Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CELF2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	CENPF Intellectual disability	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	CEP120 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP135 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP152 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP290 Intellectual disability	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	CEP57 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP83 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP85L Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	CFL2 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHAMP1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHAT Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHCHD10 Paediatric motor neuronopathies	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	CHD2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHD3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHD4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	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	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	CHKB Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHKB Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHKB Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHKB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHMP1A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHRNA1 Congenital myaesthenic syndrome	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	CHRNB1 Congenital myaesthenic syndrome	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	deletions
Green	CHRND Congenital myaesthenic syndrome	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	CHRNE Congenital myaesthenic syndrome	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CHRNG Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHST14 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHST3 Likely inborn error of metabolism	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 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CIC Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CISD2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CIT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CKAP2L Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLCN3 Intellectual disability	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Other	N/A
Green	CLCN4 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	CLCN6 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CLDN11 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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	CLDN5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	CLN3 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN5 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN6 Likely inborn error of metabolism	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	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	CLPP Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLTC Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CNKSR2 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	CNNM2 Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CNNM2 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CNOT1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CNOT2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CNOT3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CNOT9 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	CNTNAP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CNTNAP2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	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	COG1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG4 Likely inborn error of metabolism	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	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 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG7 Intellectual disability	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	COL12A1 Congenital muscular dystrophy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL12A1 Congenital myopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL13A1 Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	COL4A1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COL4A2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COL4A3BP Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	new-gene-name
Green	COL6A1 Congenital muscular dystrophy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL6A1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL6A1 Congenital myopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL6A2 Congenital muscular dystrophy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL6A2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL6A2 Congenital myopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL6A3 Congenital myopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL6A3 Congenital muscular dystrophy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL6A3 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COLEC11 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COLQ Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	COPB2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COQ2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ4 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ4 Rhabdomyolysis and metabolic muscle disorders	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 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ8A Rhabdomyolysis and metabolic muscle disorders	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	COX10 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX10 Intellectual disability	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 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
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	COX6A2 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX6B1 Likely inborn error of metabolism	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	CP Likely inborn error of metabolism	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	CPOX Likely inborn error of metabolism	BOTH monoallelic and 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	CPT1A Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPT2 Rhabdomyolysis and metabolic muscle disorders	BOTH monoallelic and 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	CPT2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CRADD Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CRB2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CREBBP Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CRLS1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CRYAB Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CRYAB Distal myopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CSDE1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
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 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	CSPP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSTB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	Other	nucleotide-repeat-expansion
Green	CTBP1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	missense
Green	CTCF Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CTDP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTH Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTNNA2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTNNB1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CTNND1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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 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	CTSD Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSD Likely inborn error of metabolism	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	CTU2 Intellectual disability	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 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CUL4B Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	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	CWC27 Intellectual disability	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	CYC1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYC1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYFIP2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CYP27A1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP7B1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	D2HGDH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	D2HGDH Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DAG1 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	watchlist_moi
Green	DAG1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DAG1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	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 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	DARS Intellectual disability	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	DBH Likely inborn error of metabolism	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	DCAF17 Intellectual disability	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	DCXR Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDB1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DDC Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDC Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDHD2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX11 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX23 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
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	DDX59 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX6 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DEAF1 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DEGS1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DEPDC5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DES Distal myopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DES Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	DGUOK Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DGUOK Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR24 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR24 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHDDS Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DHFR Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHFR Likely inborn error of metabolism	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 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 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHX30 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DHX37 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	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	DIS3L2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	non-coding-known-pathogenic, deletions
Green	DKC1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	DLAT 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	DLD Likely inborn error of metabolism	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	DLG4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	microduplication
Green	DLL1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DMD Rhabdomyolysis and metabolic muscle disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	gene-therapy-trial, 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	DMD Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	gene-therapy-trial, Skewed X-inactivation
Green	DMD Congenital muscular dystrophy	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	gene-therapy-trial, Skewed X-inactivation
Green	DMPK_CTG Congenital myopathy 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 Intellectual disability STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	DMPK_CTG Congenital muscular dystrophy STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	DMXL2 Intellectual disability	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	DNAJB6 Distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DNAJB6 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DNAJC12 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJC12 Likely inborn error of metabolism	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	DNM1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DNM1L Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DNM1L Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	DNM2 Congenital myopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense, watchlist_moi
Green	DNM2 Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DNM2 Distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DNMT3A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	DNMT3B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOCK3 Intellectual disability	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	DOHH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOK7 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOK7 Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	DOK7 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOLK Congenital muscular dystrophy	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 Intellectual disability	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 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPAGT1 Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPF2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	dominant-negative
Green	DPH1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPH5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM2 Congenital muscular dystrophy	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	DPYS Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPYS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPYSL5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DTYMK Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYM Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYM Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYNC1H1 Paediatric motor neuronopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DYNC1H1 Intellectual disability	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	DYSF Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYSF Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYSF Distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EARS2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EARS2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EBF3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	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 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ECEL1 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ECHS1 Likely inborn error of metabolism	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	EED Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EEF1A2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EFTUD2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EHBP1L1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	EHMT1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EIF2AK2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	missense
Green	EIF2AK3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2S3 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	EIF3F Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	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	EIF5A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ELAC2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ELAC2 Likely inborn error of metabolism	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	EMC10 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EMD Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	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	EML1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EMX2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ENO3 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ENO3 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ENTPD1 Intellectual disability	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	EPG5 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPG5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPG5 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPM2A Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERBB4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ERCC1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC3 Intellectual disability	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	ERCC6L2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	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 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ESCO2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFA Rhabdomyolysis and metabolic muscle disorders	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 Rhabdomyolysis and metabolic muscle disorders	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 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFDH Likely inborn error of metabolism	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 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXOSC3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXOSC3 Paediatric motor neuronopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXT1 Likely inborn error of metabolism	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EXT2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXT2 Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	EXTL3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EZH2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	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	FAM126A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	FAM20C Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
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	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 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	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	FAT4 Intellectual disability	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 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	FBXO11 Intellectual disability	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 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	FDX2 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	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	FECH Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FGD1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FGF12 Intellectual disability	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	FH Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FHL1 Congenital muscular dystrophy	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	FHL1 Distal myopathies	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	FHL1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	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	FIG4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FILIP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKBP14 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKRP Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKRP Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKRP Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKRP Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKRP Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKTN Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKTN Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKTN Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKTN Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	structural-variant
Green	FLAD1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FLAD1 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FLNC Distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FLNC Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FLVCR2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FMN2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FMO3 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	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	FOLR1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FOLR1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FOXG1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FOXP1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FOXP2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FOXRED1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FOXRED1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FRMD5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FRMPD4 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	FTCD 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	FTSJ1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FUCA1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FUCA1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FUT8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FUT8 Likely inborn error of metabolism	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 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	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 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GAA Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GAA Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GABBR2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense
Green	GABRA1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GABRA2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense
Green	GABRA5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GABRB2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GABRB3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GABRD Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	GABRG2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GABRG2 Likely inborn error of metabolism	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GAD1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALC Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALC Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALE Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALE Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALK1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALM Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALNS Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALNT2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALNT2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALNT3 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALT Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GAMT Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GAMT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GARS Likely inborn error of metabolism	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	new-gene-name
Green	GATAD2B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GATM Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GATM Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GBA Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	GBE1 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GBE1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GCDH Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GCDH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GCH1 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GCH1 Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GCLC Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GCSH Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GCSH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GDAP1 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	GDI1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GEMIN5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFAP Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GFER Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFER Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFM1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFM1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFM2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFPT1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFPT1 Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GGPS1 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GIF Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	GJC2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GK Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GK Likely inborn error of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GLA 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	GLB1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLB1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLDC Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLDC Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLI2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GLI3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	Q2_24_demote_amber, Q2_24_NHS_review
Green	GLIS3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLRA1 Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GLRA2 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	Autism Spectrum Disorder
Green	GLRX5 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLS Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	STR, watchlist_moi
Green	GLUD1 Likely inborn error of metabolism	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	GLUL Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLUL Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLYCTK Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	GLYCTK Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GM2A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GM2A Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPA Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPB Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPB Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPB Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPB Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPB Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNAI1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GNAO1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GNAS Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	mosaicism
Green	GNB1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GNB2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GNB5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNE Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNE Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GNE Distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNMT Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPAT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPAT Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPTAB Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPTAB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPTG Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPTG Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNS Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GORAB Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GPAA1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GPC3 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GPC4 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	Skewed X-inactivation
Green	GPD1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GPHN Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GPIHBP1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GPT2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GRHPR Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GRIA1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	watchlist_moi
Green	GRIA2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GRIA3 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GRIA4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GRID2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GRIK2 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GRIN1 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GRIN2A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GRIN2B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GRIN2D Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GRM1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GRM7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GRN Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GSS Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GTF2E2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GTF2H5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GTPBP2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GTPBP3 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GTPBP3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GUSB Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GUSB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GYG1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GYG1 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GYS1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GYS1 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GYS2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	H3F3A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	new-gene-name
Green	H3F3B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	new-gene-name
Green	HAAO Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HACD1 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HACE1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HADH Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HADHA Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HADHA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HADHA Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HADHB Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HADHB Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HAMP Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HARS2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HCCS 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	HCCS Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	HCFC1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	HCFC1 Likely inborn error of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	HCN1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HDAC4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HDAC8 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	HECTD4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	HECW2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	HEPACAM Intellectual disability	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	HERC1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HERC2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HESX1 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	HEXA Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HEXA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HEXB Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HEXB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HFE Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HFE2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	HGD Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HGSNAT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HGSNAT Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HIBCH Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HIBCH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HID1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HIST1H1E Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	new-gene-name
Green	HIST1H4C Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	new-gene-name
Green	HIST1H4E Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	new-gene-name
Green	HIVEP2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HK1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	missense
Green	HLCS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HLCS Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HMBS Likely inborn error of metabolism	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HMGB1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	HMGCL Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HMGCL Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HMGCS2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HNMT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HNRNPA2B1 Congenital muscular dystrophy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HNRNPA2B1 Congenital myopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HNRNPDL Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HNRNPH1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HNRNPH2 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	HNRNPK Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HNRNPR Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HNRNPU Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HOGA1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HOXA1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HPD Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	HPD Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	HPDL Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	HPRT1 Likely inborn error of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	HPRT1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	HPS1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HRAS Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HS2ST1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSD17B10 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	Q1_24_MOI
Green	HSD17B10 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	HSD17B4 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSD17B4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSD3B7 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSPA9 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSPB1 Distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HSPB8 Distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HSPD1 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	HSPD1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HTRA2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HTRA2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HUWE1 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	HYAL1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IARS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	IARS2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IBA57 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IBA57 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IDH2 Likely inborn error of metabolism	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	IDH2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	IDS Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	IDS Likely inborn error of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	IDUA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IDUA Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IER3IP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IER3IP1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFIH1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	IFT172 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IGF1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IGF1R Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IGHMBP2 Paediatric motor neuronopathies	BIALLELIC, autosomal or pseudoautosomal	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	IKBKG Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	IL1RAPL1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	IMPDH2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	INPP5E Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INPP5K Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INPP5K Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INTS1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INTS11 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IQSEC2 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	IRF2BPL Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	IRX5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA-37390-Loss Intellectual disability 5p15 terminal (Cri du chat syndrome) region Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37392-Gain Intellectual disability 7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37392-Loss Intellectual disability 7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37393-Gain Intellectual disability 22q11.21 recurrent (Cat eye syndrome) region (includes CECR2) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37394-Loss Intellectual disability 2q37.3 terminal region (includes HDAC4) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37396-Loss Intellectual disability 15q24 recurrent region (A-D) (includes SIN3A) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37397-Gain Intellectual disability 22q11.2 recurrent region (distal region, LCR22-D to LCR22-E or -F) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37397-Loss Intellectual disability 22q11.2 recurrent region (distal region, LCR22-D to LCR22-E or -F) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37400-Gain Intellectual disability 16p11.2 recurrent region (includes TBX6) (proximal region) (BP4-BP5) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37400-Loss Intellectual disability 16p11.2 recurrent region (includes TBX6) (proximal region) (BP4-BP5) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37401-Loss Intellectual disability 11p13 (WAGR syndrome) region Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37404-Gain Intellectual disability 15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37404-Loss Intellectual disability 15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37404-Loss Paediatric motor neuronopathies 15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37405-Loss Intellectual disability 2q13 recurrent region (includes NPHP1) Loss region	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA-37406-Loss Intellectual disability 16p13.3 region (includes CREBBP) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37408-Loss Congenital myopathy 2p15p16.1 region (includes BCL11A) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37408-Loss Paediatric motor neuronopathies 2p15p16.1 region (includes BCL11A) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37408-Loss Intellectual disability 2p15p16.1 region (includes BCL11A) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37411-Loss Intellectual disability 15q13.3 recurrent region (BP4-BP5) (includes CHRNA7) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37415-Gain Intellectual disability 16p13.11 recurrent region (includes MYH11) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37415-Loss Intellectual disability 16p13.11 recurrent region (includes MYH11) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37418-Gain Intellectual disability 17p11.2 recurrent (SMS/PLS) region (includes RAI1) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37418-Loss Intellectual disability 17p11.2 recurrent (SMS/PLS) region (includes RAI1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37420-Loss Congenital myopathy 17q21.3 recurrent region (includes KANSL1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37420-Loss Paediatric motor neuronopathies 17q21.3 recurrent region (includes KANSL1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37420-Loss Intellectual disability 17q21.3 recurrent region (includes KANSL1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37421-Gain Intellectual disability 1q21.1 recurrent region (BP3-BP4, distal) (includes GJA5) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37421-Loss Intellectual disability 1q21.1 recurrent region (BP3-BP4, distal) (includes GJA5) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37423-Gain Intellectual disability 8p23.1 recurrent region (includes GATA4) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37423-Loss Intellectual disability 8p23.1 recurrent region (includes GATA4) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37424-Loss Intellectual disability 10q22.3q23.2 recurrent region (LCR-3/4-flanked) (includes BMPR1A) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37425-Gain Intellectual disability 5q35 recurrent (Sotos syndrome) region (includes NSD1) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37425-Loss Intellectual disability 5q35 recurrent (Sotos syndrome) region (includes NSD1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37429-Loss Intellectual disability 4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37429-Loss Paediatric motor neuronopathies 4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37429-Loss Congenital myopathy 4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37430-Gain Intellectual disability 17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37430-Loss Intellectual disability 17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37431-Gain Intellectual disability 17q11.2 recurrent region (includes NF1) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37431-Loss Intellectual disability 17q11.2 recurrent region (includes NF1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37432-Gain Intellectual disability 17q12 recurrent (RCAD syndrome) region (includes HNF1B) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37432-Loss Intellectual disability 17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37433-Gain Intellectual disability 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37433-Loss Intellectual disability 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37434-Loss Intellectual disability 1p36 terminal region (includes GABRD) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37439-Gain Intellectual disability Xq28 recurrent region (includes GDI1) Gain region	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ISCA-37440-Loss Likely inborn error of metabolism 2p21 region (includes PREPL and SLC3A1) Loss region	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA-37440-Loss Intellectual disability 2p21 region (includes PREPL and SLC3A1) Loss region	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA-37441-Loss Intellectual disability 11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37443-Loss Intellectual disability 3q29 recurrent region (includes DLG1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37446-Gain Intellectual disability 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37446-Loss Intellectual disability 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37468-Loss Intellectual disability Xp11.23 region (includes MAOA and MAOB) Loss region	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ISCA-37478-Gain Intellectual disability 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37478-Loss Intellectual disability 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37478-Loss Paediatric motor neuronopathies 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37486-Loss Intellectual disability 16p11.2 recurrent region (includes SH2B1) (distal region) (BP2-BP3) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37493-Loss Intellectual disability 1q43q44 terminal region (includes AKT3) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37494-Gain Intellectual disability Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) Gain region	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ISCA-37494-Loss Intellectual disability Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) Loss region	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ISCA-37495-Loss Intellectual disability 2q11.2 recurrent region (includes ARID5A, TMEM127) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37500-Loss Intellectual disability 15q25.2 recurrent region (LCR B-C, proximal) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37501-Loss Intellectual disability 17q23.1q23.2 recurrent region (includes TBX2, TBX4) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-46290-Gain Intellectual disability Xp11.22p11.23 recurrent region (includes SHROOM4) Gain region	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ISCA-46292-Loss Intellectual disability 22q11.2 recurrent region (distal type III, D-G/H) (includes SMARCB1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-46295-Loss Intellectual disability 15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7 and OTUD7A) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-46297-Loss Intellectual disability 16p12.2 recurrent region (distal)(includes OTOA) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-46299-Gain Intellectual disability Xp11.22 region (includes HUWE1) Gain region	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ISCA-46304-Gain Intellectual disability Xq28 region (includes MECP2) Gain region	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ISCA-46553-Loss Intellectual disability 3q24 Region (includes ZIC1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-46742-Loss Intellectual disability 7p22.1 region (includes ACTB) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-46743-Gain Intellectual disability Xq25 region (includes STAG2) Gain region	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ISCA-46743-Loss Intellectual disability Xq25 region (includes STAG2) Loss region	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ISCA1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCU Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	non-coding-known-pathogenic
Green	ISCU Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	non-coding-known-pathogenic
Green	ISPD Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ISPD Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ISPD Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ISPD Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ITGA7 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ITPA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ITPA Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ITPR1 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	IVD Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IVD Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	JAG2 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	JAM3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	JARID2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KANSL1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KARS Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	KARS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	KAT5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KAT6A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KAT6B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KAT8 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	missense
Green	KBTBD13 Congenital myopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense
Green	KCNA2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNB1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNC1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCND2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	gene-checked
Green	KCNH1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNH5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	KCNJ10 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KCNJ11 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	KCNJ6 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KCNK3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	KCNK9 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Other	N/A
Green	KCNMA1 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	KCNN2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNN3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	KCNQ2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNQ3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KCNQ5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KCNT1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNT2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	KCTD3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	KCTD7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KDM1A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KDM2B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	KDM3B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KDM4B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KDM5A Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	KDM5B Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	KDM5C Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	KDM6A Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	KDM6B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KIAA0586 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIAA1109 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	KIDINS220 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KIF11 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KIF14 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIF1A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KIF1BP Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	KIF21B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	gene-checked
Green	KIF2A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KIF4A Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	KIF5A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KIF5C Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KIF7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KLF7 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	KLHL20 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	gene-checked
Green	KLHL40 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KLHL41 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KLHL7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KMT2A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KMT2B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KMT2C Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KMT2D Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KMT2E Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KMT5B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KNL1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KPTN Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KRAS Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KYNU Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	L1CAM Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	L2HGDH Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	L2HGDH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMA1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMA2 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMA2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMA2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMB1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMC3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMP2 Rhabdomyolysis and metabolic muscle 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	LAMP2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	LAMP2 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	LAMP2 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	LARGE1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LARGE1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LARGE1 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LARP7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LARS Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	LARS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	LARS2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LBR Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LCAT Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LCT Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LDB3 Distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	LDHA Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LDHA Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LDLR Likely inborn error of metabolism	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	LDLRAP1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LETM1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LETM1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LHX2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	LIAS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIAS Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIG4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LINGO4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	LINS1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIPA Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIPT1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIPT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIPT2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LMBRD1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LMBRD2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	gene-checked
Green	LMF1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LMNA Congenital muscular dystrophy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LMNA Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LMNA Congenital myopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LMNB1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	LMOD3 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LONP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LONP1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LPIN1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LPIN1 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LPIN1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LPL Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LRP2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRP4 Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRPPRC Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRPPRC Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LSS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LYRM4 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LYRM7 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LYRM7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LZTR1 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MAB21L1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAB21L2 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MACF1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	MADD Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAF Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MAGEL2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	N/A	N/A
Green	MAGT1 Likely inborn error of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	MAN1B1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAN1B1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAN2B1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAN2B1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAN2C1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MANBA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MANBA Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAOA Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	MAOA Likely inborn error of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	MAP1B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MAP2K1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MAP2K2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MAP3K20 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAPK1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	MAPK8IP3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MAPRE2 Intellectual disability	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Other	N/A
Green	MARS2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MASP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAST1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MAST4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	MAT1A Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MAT1A Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MATR3 Distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MBD5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MBOAT7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MBTPS2 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	MCCC1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCCC1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCCC2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCCC2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCEE Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCM3AP Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCOLN1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCOLN1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCPH1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MDH2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MDH2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MECP2 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	MECR Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MED11 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MED12 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	Skewed X-inactivation
Green	MED13 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MED13L Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MED17 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MED23 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MED25 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	MED27 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MEF2C Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MEGF10 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MEIS2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	METTL23 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	METTL5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	MFF Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MFF Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MFN2 Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MFSD2A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MFSD8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MFSD8 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MGAT2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MGAT2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MGME1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MICU1 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MICU1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MICU1 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MICU1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MID1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	MINPP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MIPEP Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MKKS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MKS1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MLC1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MLIP Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MLYCD Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MLYCD Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMAA Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMAA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMAB Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMAB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMACHC Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMACHC Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMADHC Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMADHC Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MN1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MOCS1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MOCS1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MOCS2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MOCS2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MOGS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MOGS Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MORC2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	MPC1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPDU1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPDU1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPI Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPLKIP Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPP5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked, new-gene-name
Green	MPV17 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MRM2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MRPL3 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MRPL44 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MRPS2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MRPS22 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MRPS22 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MRPS34 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MRPS34 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MSL3 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	MSMO1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MSMO1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MSTO1 Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	Q1_24_MOI
Green	MSTO1 Congenital muscular dystrophy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	Q1_24_MOI
Green	MT-ATP6 Likely inborn error of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-ATP8 Likely inborn error of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-CO1 Likely inborn error of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-CO1 Rhabdomyolysis and metabolic muscle disorders	MITOCHONDRIAL	N/A	gene-checked
Green	MT-CO2 Rhabdomyolysis and metabolic muscle disorders	MITOCHONDRIAL	N/A	gene-checked
Green	MT-CO2 Likely inborn error of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-CO3 Likely inborn error of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-CYB Likely inborn error of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-ND1 Likely inborn error of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-ND2 Likely inborn error of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-ND3 Likely inborn error of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-ND4 Likely inborn error of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-ND4L Likely inborn error of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-ND5 Likely inborn error of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-ND6 Likely inborn error of metabolism	MITOCHONDRIAL	N/A	gene-checked
Green	MT-RNR1 Likely inborn error of metabolism	MITOCHONDRIAL	N/A	gene-checked, locus-type-rna-ribosomal
Green	MT-TA Likely inborn error of metabolism	MITOCHONDRIAL	N/A	gene-checked, locus-type-rna-transfer
Green	MT-TC Likely inborn error of metabolism	MITOCHONDRIAL	N/A	gene-checked, locus-type-rna-transfer
Green	MT-TD Likely inborn error of metabolism	MITOCHONDRIAL	N/A	locus-type-rna-transfer, gene-checked
Green	MT-TE Likely inborn error of metabolism	MITOCHONDRIAL	N/A	locus-type-rna-transfer, gene-checked
Green	MT-TF Likely inborn error of metabolism	MITOCHONDRIAL	N/A	gene-checked, locus-type-rna-transfer
Green	MT-TG Likely inborn error of metabolism	MITOCHONDRIAL	N/A	gene-checked, locus-type-rna-transfer
Green	MT-TH Likely inborn error of metabolism	MITOCHONDRIAL	N/A	locus-type-rna-transfer, gene-checked
Green	MT-TI Likely inborn error of metabolism	MITOCHONDRIAL	N/A	gene-checked, locus-type-rna-transfer
Green	MT-TK Likely inborn error of metabolism	MITOCHONDRIAL	N/A	locus-type-rna-transfer, gene-checked
Green	MT-TL1 Likely inborn error of metabolism	MITOCHONDRIAL	N/A	gene-checked, locus-type-rna-transfer
Green	MT-TL2 Likely inborn error of metabolism	MITOCHONDRIAL	N/A	gene-checked, locus-type-rna-transfer
Green	MT-TM Likely inborn error of metabolism	MITOCHONDRIAL	N/A	locus-type-rna-transfer, gene-checked
Green	MT-TN Likely inborn error of metabolism	MITOCHONDRIAL	N/A	gene-checked, locus-type-rna-transfer
Green	MT-TP Likely inborn error of metabolism	MITOCHONDRIAL	N/A	gene-checked, locus-type-rna-transfer
Green	MT-TQ Likely inborn error of metabolism	MITOCHONDRIAL	N/A	gene-checked, locus-type-rna-transfer
Green	MT-TR Likely inborn error of metabolism	MITOCHONDRIAL	N/A	gene-checked, locus-type-rna-transfer
Green	MT-TS1 Likely inborn error of metabolism	MITOCHONDRIAL	N/A	locus-type-rna-transfer, gene-checked
Green	MT-TS2 Likely inborn error of metabolism	MITOCHONDRIAL	N/A	locus-type-rna-transfer, gene-checked
Green	MT-TV Likely inborn error of metabolism	MITOCHONDRIAL	N/A	locus-type-rna-transfer, gene-checked
Green	MT-TW Likely inborn error of metabolism	MITOCHONDRIAL	N/A	gene-checked, locus-type-rna-transfer
Green	MT-TY Likely inborn error of metabolism	MITOCHONDRIAL	N/A	gene-checked, locus-type-rna-transfer
Green	MTFMT Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTFMT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTHFR Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTHFR Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTHFS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTM1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	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	MTM1 Congenital myopathy	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	MTO1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTO1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTOR Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	mosaicism, missense, somatic
Green	MTPAP Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTR Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTR Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTRR Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTRR Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTSS1L Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	new-gene-name
Green	MTTP Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MUSK Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	deletions
Green	MUT Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	MUT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	MVK Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MVK Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MYBPC1 Congenital myopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MYCN Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYH10 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	MYH2 Congenital myopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MYH3 Congenital myopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	Q2_23_MOI, Q2_23_NHS_review
Green	MYH7 Distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYH7 Congenital myopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	Q4_22_MOI, Q2_23_NHS_review
Green	MYH7 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	Q4_22_MOI
Green	MYL1 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYL2 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYMK Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYO18B Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYO5A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYO9A Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYOD1 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYOT Distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYOT Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYPN Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYT1L Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NAA10 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	NAA15 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NACC1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	missense
Green	NADK2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAGA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAGA Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAGLU Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAGLU Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAGS Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NALCN Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	NANS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAPB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NARS Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	new-gene-name
Green	NARS2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAXD Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAXE Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NBEA Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NCDN Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NCKAP1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	NDE1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDP Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	NDST1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	NDUFA1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	NDUFA1 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	NDUFA10 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA11 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA12 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA13 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA4 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA6 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA8 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA9 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF3 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF4 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF5 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF6 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF8 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	NDUFB10 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFB11 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	NDUFB3 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFB8 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFC2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS3 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS4 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS6 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS7 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS8 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFV1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFV1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFV2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEB Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	watchlist_moi
Green	NEB Distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEDD4L Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NEMF Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEU1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEU1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEUROD2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NEUROG1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEXMIF Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	NF1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NFASC Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NFIA Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	deletions
Green	NFIX Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NFS1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	NFU1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NFU1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NGLY1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NGLY1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NHLRC1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NHS Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	NIPBL Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NKAP Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	missense
Green	NKX2-1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NLGN3 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	NNT Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NONO Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	NOVA2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NPC1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPC1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPC2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPC2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NR2F1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NR2F2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NR4A2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	Autism Spectrum Disorder
Green	NRAS Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NRCAM Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NRROS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NRXN1 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	NSD1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NSD2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NSDHL 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	NSDHL Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	NSRP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NSUN2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NSUN3 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NT5C2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NT5C3A Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NTNG2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	NTRK1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NTRK2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NUBPL Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NUBPL Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NUDT2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NUP214 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NUS1 Likely inborn error of metabolism	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NUS1 Intellectual disability	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	OAT Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OBSCN Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OCLN Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OCRL Likely inborn error of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	OCRL Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ODC1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	OFD1 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	OGDH Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OGDHL Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OGT Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	OPA1 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	OPA3 Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	OPA3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OPHN1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ORAI1 Congenital myopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense
Green	ORAI1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	OSGEP Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OTC Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	gene-therapy-trial
Green	OTC 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	OTUD5 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	OTUD6B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OTUD7A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OTX2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	OXCT1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OXR1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	P4HTM Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PABPC1 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	gene-checked
Green	PACS1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PACS2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PAFAH1B1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PAH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PAH Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PAK1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	missense
Green	PAK3 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PAN2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	PANK2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PARN Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PARS2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PAX7 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PAX8 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PBX1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PC Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PC Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCBD1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCCA Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCCA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCCB Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCCB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCDH12 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	PCDH19 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	mosaicism, x-linked-over-dominance, somatic
Green	PCDHGC4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCGF2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	PCK1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCNT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCSK9 Likely inborn error of metabolism	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	PCYT2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDE4D Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	PDGFRB Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PDHA1 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	PDHA1 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	PDHB Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDHB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDHX Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDHX Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	deletions
Green	PDK3 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)	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	PDP1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDSS1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDSS1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDSS2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDSS2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDZD8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEPD Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEPD Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PET100 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PET100 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX10 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX10 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX11B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX11B Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX12 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX12 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX13 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX13 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX14 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX14 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX16 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX16 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX19 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX19 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX26 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX26 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX3 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX5 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX6 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PEX6 Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	PEX7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX7 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PFKM Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PFKM Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PFKM Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGAM2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGAM2 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGAP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGAP2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGAP2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGAP3 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGAP3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGK1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PGK1 Rhabdomyolysis and metabolic muscle disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PGK1 Likely inborn error of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PGM1 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGM1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGM2L1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGM3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGM3 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PHACTR1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	PHF21A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	deletions
Green	PHF6 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	PHF8 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PHGDH Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PHGDH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PHIP Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PHKA1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PHKA1 Rhabdomyolysis and metabolic muscle disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PHKA1 Likely inborn error of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PHKA2 Likely inborn error of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PHKB Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PHKG2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PHYH Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PI4KA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIBF1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIDD1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIEZO2 Congenital myopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PIGA Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	Skewed X-inactivation
Green	PIGA Likely inborn error of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	Skewed X-inactivation
Green	PIGB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGC Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGG Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	Autism Spectrum Disorder
Green	PIGK Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGL Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGL Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGM Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	non-coding-known-pathogenic, promoter
Green	PIGN Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGN Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGO Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGO Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGP Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGQ Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGS Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGT Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGU Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	missense
Green	PIGV Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGV Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGW Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIK3CA Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	mosaicism, somatic
Green	PIK3R2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PINK1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIP5K1C Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PITRM1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	PLA2G6 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLA2G6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLAA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLCB1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLEC Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLEC Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	monogenic-polygenic
Green	PLEC Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLK1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	PLK4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLP1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PLPBP Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLXNA1 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PMM2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMM2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMPCA Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMPCB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMPCB Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNKP Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNP Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPLA2 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPLA2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPLA6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPLA8 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPO Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPT1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POGZ Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	POLA1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	POLG Rhabdomyolysis and metabolic muscle disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	POLG Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLG Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	POLG2 Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	POLG2 Rhabdomyolysis and metabolic muscle disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	POLR1C Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLR2A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	POLR3A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLR3B Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	POLRMT Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT1 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT2 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMK Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMK Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT1 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT2 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POR Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PORCN Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	POU3F2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	POU3F3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PPA2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPFIBP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPIL1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPM1D Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PPOX Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PPP1CB Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PPP1R12A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PPP1R15B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPP1R21 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	PPP1R3F Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	gene-checked
Green	PPP2CA Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PPP2R1A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PPP2R5D Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PPP3CA Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PPT1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PQBP1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PRDM13 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRICKLE2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	PRKAG2 Likely inborn error of metabolism	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PRKAG2 Rhabdomyolysis and metabolic muscle disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PRKAR1B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PRMT7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRODH Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRPF8 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PRPS1 Likely inborn error of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PRPS1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PRR12 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PRSS12 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRUNE1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PSAP Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PSAP Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PSAT1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PSMC3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	PSMD12 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PSPH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PTCD3 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PTCH1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PTCHD1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PTDSS1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PTEN Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PTF1A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PTPN11 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PTPN23 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PTPN4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	PTRHD1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PTS Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PTS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PUF60 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	microdeletion
Green	PUM1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PURA Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PUS1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PUS1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PUS3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PUS7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PYCR1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PYCR1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PYCR2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PYGL Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PYGM Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PYGM Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PYGM Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PYROXD1 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	QARS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	QDPR Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	QDPR Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	QRICH1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	QRSL1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB11A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	RAB11B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RAB18 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB23 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB39B Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	RAB3GAP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB3GAP2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB5C Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	RAC1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RAC3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	RAD21 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RAF1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RAI1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RALA Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	RALGAPA1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAP1B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RAPSN Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RARB Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RARS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	RARS2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RARS2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RBBP8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RBCK1 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RBCK1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RBL2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RBM10 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	RBP4 Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RBSN Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	RELN Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RERE Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RFT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RFT1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RFX3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	RFX4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	RFX7 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RHOBTB2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	RIT1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RLIM Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	missense
Green	RMND1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RMND1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNASEH1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNASEH2A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNASEH2B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNASEH2C Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNASET2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNF113A Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	Skewed X-inactivation
Green	RNF125 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RNF13 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	RNU7-1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked, locus-type-rna-small-nuclear
Green	ROBO1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	watchlist_moi
Green	ROGDI Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RORA Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPGRIP1L Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RPIA Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RPIA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RPL10 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	RPL10 Likely inborn error of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	RPS6KA3 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	RRM2B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RRM2B Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RRM2B Rhabdomyolysis and metabolic muscle disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RSRC1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RTEL1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RTN4IP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RTN4IP1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RTTN Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RYR1 Congenital myopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	pharmacogenetics, treatable
Green	RYR1 Rhabdomyolysis and metabolic muscle disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RYR1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RYR3 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SACS Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SAMD9 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	missense
Green	SAMHD1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SAMHD1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SAR1B Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SARS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	SARS2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SARS2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SATB1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SATB2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SBF1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SC5D Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SC5D Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCAF4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SCAMP5 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	gene-checked
Green	SCAPER Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCN1A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SCN2A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SCN3A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SCN4A Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCN4A Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCN4A Rhabdomyolysis and metabolic muscle disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SCN8A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	SCO1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCO2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCO2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCP2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCYL1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDCCAG8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDHA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDHA Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SDHAF1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDHAF1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDHB Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDHD Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SEC23B Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SELENON Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SELENON Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SELENON Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SEMA6B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SEPSECS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SERAC1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SERAC1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SET Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SETBP1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SETD1A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SETD1B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SETD2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	de novo
Green	SETD5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SETX Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SFXN4 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SFXN4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGCA Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGCA Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGCB Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGCD Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGCG Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGPL1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGSH Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGSH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SHANK1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	SHANK2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SHANK3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SHH Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SHMT2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SHMT2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SHOC2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SHQ1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SI Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SIAH1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SIK1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SIL1 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SIL1 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SIL1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SIN3A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SIN3B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	SIX3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SKI Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SKIV2L Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	SLC12A2 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SLC12A3 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	monogenic-polygenic
Green	SLC12A5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC12A6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC13A5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC16A1 Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SLC16A2 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SLC17A5 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC17A5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC18A2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC18A3 Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC19A2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC19A3 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC19A3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC1A1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC1A2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SLC1A4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC22A5 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC22A5 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A1 Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A12 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A12 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A13 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A15 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A15 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A19 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A20 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A22 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A22 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A26 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A3 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A32 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	SLC25A38 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A4 Congenital myopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SLC25A4 Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A42 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A46 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC2A1 Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SLC2A1 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SLC2A2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC30A10 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC30A9 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC32A1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SLC33A1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC35A1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC35A1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC35A2 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	SLC35A2 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	SLC35C1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC35C1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC35D1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC37A4 Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SLC38A3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC39A14 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC39A14 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC39A4 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC39A8 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC39A8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC3A1 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	SLC40A1 Likely inborn error of metabolism	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SLC46A1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC46A1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC4A4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC52A2 Paediatric motor neuronopathies	BIALLELIC, autosomal or pseudoautosomal	Loss-of-function variants DO NOT cause this phenotype	treatable
Green	SLC52A2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC52A3 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC52A3 Paediatric motor neuronopathies	BIALLELIC, autosomal or pseudoautosomal	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	SLC5A1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC5A6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC5A6 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC5A7 Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC6A1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SLC6A17 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC6A19 Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	Q2_24_NHS_review, Q2_24_MOI, Q2_24_expert_review
Green	SLC6A19 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC6A3 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC6A3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC6A8 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SLC6A8 Likely inborn error of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SLC6A9 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC7A7 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC7A9 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	SLC9A6 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	SLX4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMAD4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMARCA2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SMARCA4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SMARCA5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	SMARCB1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SMARCC2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMARCD1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMARCE1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SMC1A Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	SMC3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMG8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMN1 Paediatric motor neuronopathies	BIALLELIC, autosomal or pseudoautosomal	Loss-of-function variants DO NOT cause this phenotype	cnv, gene-therapy-trial
Green	SMOC1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMPD1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMPD1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMPD4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMPX Distal myopathies	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	SMS Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SNAP25 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SNAP29 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SNIP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	SNORD118 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	locus-type-small-nucleolar
Green	SNRPB Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SNX14 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SNX27 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	SON Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SOS1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SOS2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SOX10 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SOX11 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SOX2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SOX4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SOX5 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SOX6 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SOX9 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	Q2_24_demote_amber, Q2_24_NHS_review
Green	SPART Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPATA5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	SPATA5L1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked, new-gene-name
Green	SPECC1L Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SPEG Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPEN Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SPG11 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPG11 Paediatric motor neuronopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPG7 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	SPOP Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	SPR Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	SPR Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	SPRED1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SPRED2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPTAN1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SPTBN1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SPTBN2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPTBN4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPTLC1 Likely inborn error of metabolism	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SPTLC2 Likely inborn error of metabolism	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SQSTM1 Distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SRCAP Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SRD5A3 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SRD5A3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SRRM2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SRSF1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SSBP1 Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SSR4 Likely inborn error of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SSR4 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ST3GAL3 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ST3GAL3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ST3GAL5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ST3GAL5 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STAC3 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STAG1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	microdeletion
Green	STAG2 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	STAMBP Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STIL Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STIM1 Congenital myopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense
Green	STIM1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	STRA6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STRADA Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	deletions
Green	STS 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	STT3A Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	STT3A Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	STX1B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	STXBP1 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SUCLA2 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUCLA2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUCLG1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUCLG1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUFU Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SUMF1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUMF1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUOX Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUOX Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUPT16H Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SURF1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SURF1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUZ12 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SVBP Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	SYN1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SYNCRIP Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	SYNE1 Congenital muscular dystrophy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SYNE1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SYNE2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SYNGAP1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SYNJ1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SYP Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SYT1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	de novo
Green	SYT2 Congenital myaesthenic syndrome	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SZT2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TACO1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAF1 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	TAF2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAF4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TAF6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAF8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TALDO1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAMM41 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TANC2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TANGO2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TANGO2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TANGO2 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAOK1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TARS2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TASP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAT Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAT Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAZ Likely inborn error of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	new-gene-name
Green	TAZ Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	new-gene-name
Green	TBC1D20 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBC1D23 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBC1D24 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBCD Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBCE Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBCK Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBL1XR1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TBR1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TCAP Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCEAL1 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	TCF20 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	de novo
Green	TCF4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TCF7L2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TCN2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCN2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TDP2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TECPR2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TEFM Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TELO2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TENM3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TET3 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TFAM Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TFE3 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	Skewed X-inactivation
Green	TFR2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TGIF1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TH Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	TH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	THOC2 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	THOC6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	THRA Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	THUMPD1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TIA1 Distal myopathies	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	TIAM1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TIMM50 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TIMM50 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TIMM8A Likely inborn error of metabolism	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	TIMMDC1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TK2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TK2 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TLK2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TMCO1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM106B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	missense
Green	TMEM126B Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM147 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM165 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM165 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM199 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM216 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM222 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TMEM237 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM240 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TMEM5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TMEM5 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TMEM5 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TMEM63B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	TMEM63C Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TMEM67 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM70 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM70 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM94 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TMTC3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMX2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TNNC2 Congenital myopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TNNI2 Congenital myopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TNNT1 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	Q2_23_MOI, Q2_23_NHS_review
Green	TNNT3 Congenital myopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TNPO2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TNPO3 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TNRC6B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TOE1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TOP3A Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TOR1A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TOR1AIP1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TP73 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TPK1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TPM2 Congenital myopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	watchlist_moi, Q2_23_MOI, Q2_23_NHS_review
Green	TPM3 Congenital myopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TPP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TPP1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TPP2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRA2B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	TRAF7 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TRAIP Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAP1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TRAPPC11 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAPPC11 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAPPC12 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAPPC4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAPPC6B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAPPC9 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TREX1 Intellectual disability	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TREX1 Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TRIM32 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRIM37 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRIM8 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TRIO Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TRIP12 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TRIP4 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRIP4 Paediatric motor neuronopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRIT1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TRIT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TRMT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRMT10A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRMT10C Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRMT5 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRMU Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRNT1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRNT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRPM3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	missense
Green	TRPM6 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRPV4 Paediatric motor neuronopathies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TRRAP Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	TSC1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TSC2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TSEN2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSEN34 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSEN54 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSFM Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSFM Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSFM Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSHB Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSPAN7 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	TSPOAP1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC19 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC19 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC37 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TTC37 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TTC5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TTC8 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTI1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTI2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTN Distal myopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TTN Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	TTN Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTPA Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TUBA1A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TUBB Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TUBB2A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TUBB2B Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TUBB3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TUBB4A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TUBG1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TUBGCP6 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TUFM Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TUSC3 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TUSC3 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TWIST1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TWNK Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TYMP Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TYMP Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	U2AF2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	UBA1 Paediatric motor neuronopathies	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	UBA5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBAP2L Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	UBE2A Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	UBE3A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	N/A	N/A
Green	UBE3B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBE4A Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBR1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBR7 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBTF Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	UFM1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	de novo
Green	UFSP2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	UGDH Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UGP2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UGT1A1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UMOD Likely inborn error of metabolism	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	UMPS Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UMPS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UNC80 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UPB1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UPF3B Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	UQCC2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UQCRB Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UQCRC2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UQCRFS1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UROC1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UROD Likely inborn error of metabolism	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	UROS Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	USP7 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	USP9X Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	VAMP1 Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VAMP2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	VARS Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	VARS2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VARS2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VCP Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	VCP Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	VCP Distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	VIPAS39 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VKORC1 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	VLDLR Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VMA21 Congenital myopathy	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	VMA21 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	VPS11 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS13B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS16 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS33A Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS33B Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS41 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS4A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	VPS53 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	VRK1 Paediatric motor neuronopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VRK1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WAC Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	WARS2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WARS2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WASF1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	WDFY3 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	WDPCP Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR26 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	WDR37 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	missense, gene-checked
Green	WDR4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR45 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	WDR45 Intellectual disability	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	WDR45B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR62 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR73 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR81 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WFS1 Likely inborn error of metabolism	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	WIPI2 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WNK3 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	WNT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WWOX Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XDH Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XPNPEP3 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XRCC4 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XYLT1 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XYLT1 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XYLT2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	YARS2 Likely inborn error of metabolism	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	YIF1B Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	YIPF5 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	YWHAG Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	YY1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ZBTB18 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZBTB20 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ZBTB24 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZBTB47 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	ZBTB7A Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ZC4H2 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	ZDHHC9 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ZEB2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ZFHX4 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZFYVE26 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZIC1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ZIC2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ZMIZ1 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZMYM2 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZMYM3 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	ZMYND11 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ZMYND8 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	ZNF142 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZNF292 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZNF335 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZNF462 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZNF526 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZNF699 Intellectual disability	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZNF711 Intellectual disability	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ZSWIM6 Intellectual disability	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	mosaicism, curated-variant-list

Hypotonic infant (Version: 38.733.729.125.118.19.41)

Hypotonic infant (Version: )