Genomics England
GMS Panels
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Genes and Entities

Unexplained death in infancy and sudden unexplained death in childhood (Version: )

There is a more recent signed-off version of this panel
Relevant disorders: R441
This panel contains these 11 panels:
  • Early onset or syndromic epilepsy
  • Likely inborn error of metabolism
  • Paediatric or syndromic cardiomyopathy
  • Dilated and arrhythmogenic cardiomyopathy
  • Hypertrophic cardiomyopathy
  • Short QT syndrome
  • Long QT syndrome
  • Catecholaminergic polymorphic VT
  • Progressive cardiac conduction disease
  • Arrhythmogenic right ventricular cardiomyopathy
  • Brugada syndrome and cardiac sodium channel disease
Signed off date: 7 Aug 2024
Panel types: GMS Rare Disease Virtual, Super Panel, GMS signed-off
See this panel in PanelApp
1276 unique green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
AARS
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
AARS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AARS2
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AASS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ABAT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ABAT
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ABCA1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ABCB11
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ABCB4
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ABCB7
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
ABCC9
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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/AN/A
Green
ABCD4
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ABCG5
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ABCG8
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ABHD12
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ABHD5
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACACA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACAD8
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACAD9
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACAD9
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACADM
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACADS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACADSB
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACADVL
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACADVL
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACAT1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACO2
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ACOX1
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
ACOX1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACSF3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACTA1
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ACTC1
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ACTC1
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ACTC1
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ACTL6B
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACTN2
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ACTN2
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ACTN2
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ACY1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ADA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ADAR
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ADAR
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ADARB1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ADGRG1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ADPRHL2
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
ADSL
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ADSL
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AFF3
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypemissense
Green
AFG3L2
Likely inborn error of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
AGA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AGK
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AGK
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AGL
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AGO1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
AGPS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AGXT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AHCY
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
AIFM1
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
AIMP1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AKR1D1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AKT3
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ALAD
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/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/AN/A
Green
ALDH18A1
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ALDH3A2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALDH4A1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALDH5A1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALDH5A1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALDH6A1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALDH7A1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALDH7A1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
ALDOA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALDOB
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALG1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALG1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALG11
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALG11
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALG12
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALG13
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
ALG14
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALG14
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALG3
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALG3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALG6
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALG6
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALG8
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALG8
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALG9
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALG9
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALKBH8
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALMS1
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALPK3
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALPK3
Hypertrophic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALPL
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALPL
Likely inborn error of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
AMACR
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AMN
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AMPD2
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AMT
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AMT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ANKRD11
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ANO10
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AP1G1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
AP2M1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthermissense
Green
AP3B2
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
APC2
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
APOA1
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
APOA5
Likely inborn error of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
APOB
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
APOC2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
APOE
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
APOPT1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
APRT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
APTX
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ARF1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ARF3
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
ARFGEF1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ARFGEF2
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ARG1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ARG1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ARHGEF9
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
ARID1B
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ARSA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ARSB
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ARSE
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Anew-gene-name
Green
ARV1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ARX
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
ASAH1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ASAH1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ASH1L
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ASL
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ASL
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ASNS
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ASPA
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ASPA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ASS1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ASXL3
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ATAD3A
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ATIC
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATN1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
ATN1_CAG
Early onset or syndromic epilepsy
STR		MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/ASTR
Green
ATP13A2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATP1A1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ATP1A2
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ATP1A3
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ATP5A1
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Anew-gene-name
Green
ATP5D
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
ATP5E
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
ATP5G3
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Anew-gene-name
Green
ATP5O
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
ATP5O
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
ATP6AP1
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
ATP6V0A1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Awatchlist_moi
Green
ATP6V0A2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATP6V0A2
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATP6V0C
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ATP6V1A
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ATP7A
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
ATP7A
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
ATP7B
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATP8B1
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ATPAF2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATRX
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
AUH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
B3GALNT2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
B3GALT6
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
B3GAT3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
B3GLCT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
B4GALNT1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
B4GALT1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
B4GALT7
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BAAT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BAG3
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BAG3
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BAP1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BCAT2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
BCKDHA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BCKDHA
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BCKDHB
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BCKDHB
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BCKDK
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BCS1L
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BCS1L
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOLA3
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOLA3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BRAF
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
BRAT1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BSCL2
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BTD
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BTD
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
C12orf57
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
C12orf65
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
C19orf12
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
C19orf70
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
C1QBP
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
C2orf69
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
CA5A
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CACNA1A
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
CACNA1B
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CACNA1C
Short QT syndrome
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CACNA1C
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CACNA1C
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CACNA1C
Long QT syndrome
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CACNA1C
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CACNA1D
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
CACNA1E
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
CACNA1G
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypemissense
Green
CACNA1I
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
CACNA2D2
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CAD
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CALM1
Long QT syndrome
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CALM1
Catecholaminergic polymorphic VT
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CALM2
Long QT syndrome
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CALM2
Catecholaminergic polymorphic VT
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CALM3
Catecholaminergic polymorphic VT
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CALM3
Long QT syndrome
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CAP2
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
CAPRIN1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CARS2
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CARS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CASK
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
CASQ2
Catecholaminergic polymorphic VT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CAT
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
CBS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CC2D2A
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CCDC115
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CDH2
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CDH2
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CDK19
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CDKL5
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
CELF2
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CEP85L
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
CERS1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CHCHD10
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CHD2
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CHD4
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CHD5
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CHKA
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CHKB
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CHRNA2
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CHRNA4
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CHRNB2
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CHST14
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CHST3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CHST6
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CHSY1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CIC
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CISD2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLCN3
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalOtherN/A
Green
CLCN4
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
CLDN16
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLDN19
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLDN5
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
CLN3
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLN3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLN5
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLN6
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLN8
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLN8
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLPB
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
CLPB
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
CLPP
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLTC
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CNKSR2
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
CNNM2
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
CNNM2
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
CNOT9
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
CNPY3
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CNTNAP2
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COA5
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COA6
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COA6
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COA7
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COG1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COG4
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COG5
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COG6
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COG7
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COG7
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COG8
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COL18A1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COL4A1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
COL4A2
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
COQ2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COQ2
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COQ4
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COQ4
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COQ6
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COQ7
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COQ8A
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COQ8B
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COQ9
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COQ9
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COX10
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COX10
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COX14
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COX15
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COX15
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COX20
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COX5A
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COX6A1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COX6B1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/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/AN/A
Green
CP
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CPLX1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CPOX
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
CPS1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CPT1A
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CPT2
Paediatric or syndromic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
CPT2
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
CREBBP
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CRELD1
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalOtherN/A
Green
CRLS1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CSGALNACT1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CSNK2B
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CSRP3
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CSRP3
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CSTB
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Anucleotide-repeat-expansion
Green
CSTB_CCCCGCCCCGCG
Early onset or syndromic epilepsy
STR		BIALLELIC, autosomal or pseudoautosomalN/ASTR
Green
CTH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CTNNA2
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CTNS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CTSA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CTSC
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CTSD
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CTSD
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CTSF
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CTSK
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CUBN
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CUL3
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CUL4B
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
CUX2
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CYC1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CYFIP2
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
CYP27A1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CYP7B1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
D2HGDH
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
D2HGDH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DARS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DARS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DBH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DBT
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DBT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DCX
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DCXR
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDC
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDC
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDX3X
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
DEAF1
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DEGS1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DENND5A
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DEPDC5
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DES
Progressive cardiac conduction disease
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DES
Dilated and arrhythmogenic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DES
Arrhythmogenic right ventricular cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DES
Paediatric or syndromic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DGUOK
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DHCR24
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DHCR7
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DHDDS
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DHFR
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DHODH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DHPS
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DHTKD1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DHX30
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DIAPH1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DLAT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DLD
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DLL1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DMD
Dilated and arrhythmogenic cardiomyopathy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/ASkewed X-inactivation
Green
DMD
Paediatric or syndromic cardiomyopathy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/ASkewed X-inactivation
Green
DMPK_CTG
Likely inborn error of metabolism
STR		MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/ASTR
Green
DMXL2
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DNA2
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DNAJC12
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DNAJC19
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DNAJC19
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DNAJC5
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DNAJC6
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DNM1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Awatchlist_moi
Green
DNM1L
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DNM1L
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DNM2
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DOCK7
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DOLK
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DOLK
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DOLK
Dilated and arrhythmogenic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DOLK
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DPAGT1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DPAGT1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DPH5
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DPM1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DPM1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DPM2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DPM3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DPYD
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DPYD
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DPYS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DROSHA
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypegene-checked, locus-type-rna-micro
Green
DSC2
Paediatric or syndromic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DSC2
Arrhythmogenic right ventricular cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DSC2
Dilated and arrhythmogenic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DSG2
Arrhythmogenic right ventricular cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DSG2
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DSG2
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DSP
Arrhythmogenic right ventricular cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DSP
Dilated and arrhythmogenic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DSP
Paediatric or syndromic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DTYMK
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DYM
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DYNC1H1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DYRK1A
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
EARS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EARS2
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/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/AN/A
Green
ECHS1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EDEM3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EEF1A2
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
EFTUD2
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
EHBP1L1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
EHMT1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
EIF2B1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EIF2B2
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EIF2B3
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EIF2B4
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EIF2B5
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EIF2S3
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
EIF3F
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EIF4A2
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ELAC2
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ELAC2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EMC10
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EMD
Dilated and arrhythmogenic cardiomyopathy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
EMD
Paediatric or syndromic cardiomyopathy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
EMD
Progressive cardiac conduction disease
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
EML1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ENO3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ENTPD1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EOGT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EPG5
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EPG5
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EPG5
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EPM2A
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EPM2A
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ESAM
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ETFA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ETFB
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ETFDH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ETHE1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ETHE1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EXOSC3
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EXT1
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
EXT2
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
EXT2
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FA2H
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FAH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FAR1
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
FARS2
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FARS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FASTKD2
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FASTKD2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FBP1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FBXL4
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FBXL4
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FBXO11
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FBXO28
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FDX2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FDXR
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FECH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FGF12
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
FGF13
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
FGFR2
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FGFR3
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
FH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FHL1
Hypertrophic cardiomyopathy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
FHL1
Paediatric or syndromic cardiomyopathy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
FHOD3
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FHOD3
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FKRP
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FKTN
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FKTN
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FKTN
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FLAD1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FLNA
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
FLNC
Arrhythmogenic right ventricular cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FLNC
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
FLNC
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FLNC
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FMO3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FOLR1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FOLR1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FOXG1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
FOXRED1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FOXRED1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FRMD5
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FRRS1L
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FTCD
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FUCA1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FUCA1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FUT8
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FUT8
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FXN
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anucleotide-repeat-expansion
Green
FXN_GAA
Likely inborn error of metabolism
STR		BIALLELIC, autosomal or pseudoautosomalN/ASTR
Green
G6PC
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
G6PC3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GAA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GAA
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GABBR2
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GABRA1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GABRA2
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amissense
Green
GABRA5
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amissense
Green
GABRB1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GABRB2
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GABRB3
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GABRD
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
GABRG2
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GABRG2
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GAD1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GALC
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GALC
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GALE
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GALK1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GALM
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GALNS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GALNT2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GALNT2
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GALNT3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GALT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GAMT
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GAMT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GARS
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Anew-gene-name
Green
GATM
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GBA
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
GBA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
GBE1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GCDH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GCH1
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
GCLC
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GCSH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GCSH
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GDAP1
Likely inborn error of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
GFAP
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GFER
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GFM1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GFM2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GFPT1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GIF
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
GK
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/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/AN/A
Green
GLA
Progressive cardiac conduction disease
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
GLA
Hypertrophic cardiomyopathy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
GLB1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GLB1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GLDC
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GLDC
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GLRA1
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
GLRA2
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)OtherN/A
Green
GLRX5
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GLS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/ASTR, watchlist_moi
Green
GLUD1
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
GLUD1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GLUL
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GLUL
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GLYCTK
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GM2A
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GM2A
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GMPPA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GMPPB
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GNAO1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GNAQ
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypemosaicism, somatic
Green
GNB1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
GNB5
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GNE
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
GNMT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GNPAT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GNPTAB
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GNPTG
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GNS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GORAB
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GOSR2
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Afounder-effect
Green
GOT2
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
GPAA1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GPD1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GPHN
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
GPHN
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
GPIHBP1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GRHPR
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GRIA2
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GRIA4
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GRIK2
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
GRIN1
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
GRIN2A
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GRIN2B
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GRIN2D
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GRM7
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GRN
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GRN
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GSS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GTPBP2
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GTPBP3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GUSB
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GUSB
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GYG1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GYS1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GYS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
H3F3A
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Anew-gene-name
Green
H3F3B
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Anew-gene-name
Green
HAAO
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HACE1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HADH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HADHA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HADHA
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HADHB
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HADHB
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HAMP
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HARS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HAX1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/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/AN/A
Green
HCFC1
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
HCFC1
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
HCN1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
HCN2
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
HCN4
Progressive cardiac conduction disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
HECTD4
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
HECW2
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
HEPACAM
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HERC2
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HEXA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HEXA
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HEXB
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HEXB
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HFE
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HFE2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
HGD
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HGSNAT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HIBCH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HID1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HLCS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HMBS
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
HMGCL
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HMGCL
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HMGCS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HNRNPH2
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
HNRNPR
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
HNRNPU
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
HOGA1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HPD
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
HPDL
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
HPRT1
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
HPS1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HRAS
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
HRAS
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
HS2ST1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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/AN/A
Green
HSD17B4
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HSD17B4
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HSD3B7
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HSPA9
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HSPD1
Likely inborn error of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
HTRA2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HTRA2
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HYAL1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IARS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IBA57
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IDH2
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
IDH2
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
IDS
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
IDUA
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IDUA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IER3IP1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IER3IP1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IFIH1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
IKBKG
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
IQSEC2
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
IRF2BPL
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37404-Loss
Early onset or syndromic epilepsy
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37411-Loss
Early onset or syndromic epilepsy
15q13.3 recurrent region (BP4-BP5) (includes CHRNA7) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37415-Loss
Early onset or syndromic epilepsy
16p13.11 recurrent region (includes MYH11) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37423-Gain
Early onset or syndromic epilepsy
8p23.1 recurrent region (includes GATA4) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Awatchlist
Green
ISCA-37429-Loss
Early onset or syndromic epilepsy
4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37430-Loss
Early onset or syndromic epilepsy
17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37432-Gain
Early onset or syndromic epilepsy
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37433-Loss
Early onset or syndromic epilepsy
22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37434-Loss
Early onset or syndromic epilepsy
1p36 terminal region (includes GABRD) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37440-Loss
Likely inborn error of metabolism
2p21 region (includes PREPL and SLC3A1) Loss
region
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ISCA-37446-Loss
Early onset or syndromic epilepsy
22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37478-Gain
Early onset or syndromic epilepsy
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37478-Loss
Early onset or syndromic epilepsy
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37493-Loss
Early onset or syndromic epilepsy
1q43q44 terminal region (includes AKT3) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-46290-Gain
Early onset or syndromic epilepsy
Xp11.22p11.23 recurrent region (includes SHROOM4) Gain
region
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
ISCA-46295-Loss
Early onset or syndromic epilepsy
15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7 and OTUD7A) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-46297-Loss
Early onset or syndromic epilepsy
16p12.2 recurrent region (distal)(includes OTOA) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-46304-Gain
Early onset or syndromic epilepsy
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/AN/A
Green
ISCA-46743-Gain
Early onset or syndromic epilepsy
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/AN/A
Green
ISCA1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ISCA2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ISCU
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Anon-coding-known-pathogenic
Green
ISPD
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
ITPA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ITPA
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IVD
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
JPH2
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
JUP
Paediatric or syndromic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
JUP
Arrhythmogenic right ventricular cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
JUP
Dilated and arrhythmogenic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
KARS
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
KARS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
KAT5
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KAT8
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthermissense, watchlist_moi
Green
KCNA2
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KCNB1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KCNC1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KCNC2
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KCND2
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypegene-checked
Green
KCNE1
Long QT syndrome
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
KCNH1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KCNH2
Long QT syndrome
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KCNH2
Short QT syndrome
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
KCNH5
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
KCNJ10
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KCNJ11
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalLoss-of-function variants DO NOT cause this phenotypeN/A
Green
KCNJ2
Short QT syndrome
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
KCNJ2
Long QT syndrome
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KCNK4
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
KCNMA1
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
KCNQ1
Short QT syndrome
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KCNQ1
Long QT syndrome
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
KCNQ2
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KCNQ3
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KCNQ5
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KCNT1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KCNT2
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KCTD3
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
KCTD7
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KDM6B
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KIAA1109
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
KIF1A
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KIF2A
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KIF5C
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KLHL20
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypegene-checked
Green
KMT2E
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KPTN
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KRAS
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
KRAS
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
KYNU
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
L2HGDH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LAMP2
Progressive cardiac conduction disease
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
LAMP2
Paediatric or syndromic cardiomyopathy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
LAMP2
Hypertrophic cardiomyopathy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
LAMP2
Dilated and arrhythmogenic cardiomyopathy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/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/AN/A
Green
LARGE1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LARS
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
LARS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
LARS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LBR
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
LCAT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LCT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LDB3
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LDHA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LDLR
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
LDLRAP1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LETM1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LETM1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LETM1
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LGI1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
LIAS
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LIAS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LIPA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LIPT1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LIPT2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LMBRD1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LMBRD2
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypegene-checked
Green
LMF1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LMNA
Arrhythmogenic right ventricular cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
LMNA
Paediatric or syndromic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
LMNA
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
LMNA
Progressive cardiac conduction disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
LMOD2
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LONP1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LPIN1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LPL
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
LRPPRC
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LYRM4
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LYRM7
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LZTR1
Paediatric or syndromic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MACF1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
MADD
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MAF
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MAGT1
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
MAN1B1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MAN2B1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MANBA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MAOA
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
MAP2K1
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
MAP2K1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MAP2K2
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MAP2K2
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
MARS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MAST4
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
MAT1A
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MBD5
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MBOAT7
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MCCC1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MCCC2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MCEE
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MCOLN1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MDH2
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MDH2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MECP2
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
MECR
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MED11
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MED12
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/ASkewed X-inactivation
Green
MED27
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MEF2C
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MFF
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MFF
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MFN2
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MFSD8
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MFSD8
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MGAT2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MGME1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MICU1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MINPP1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MIPEP
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MLC1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MLYCD
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MLYCD
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MMAA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MMAB
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MMACHC
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MMACHC
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MMADHC
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MMADHC
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MOCS1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MOCS1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MOCS2
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MOCS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MOGS
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MOGS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MPC1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MPDU1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MPDU1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MPI
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MPV17
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MRAS
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
MRM2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MRPL3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MRPL44
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MRPL44
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MRPS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MRPS22
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MRPS34
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MSMO1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MSTO1
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AQ1_24_MOI
Green
MT-ATP6
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
MT-ATP8
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
MT-CO1
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
MT-CO2
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
MT-CO3
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
MT-CYB
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
MT-ND1
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
MT-ND2
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
MT-ND3
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
MT-ND4
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
MT-ND4L
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
MT-ND5
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
MT-ND6
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked
Green
MT-RNR1
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-ribosomal
Green
MT-TA
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
MT-TC
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
MT-TD
Likely inborn error of metabolism
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
MT-TE
Likely inborn error of metabolism
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
MT-TF
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
MT-TG
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
MT-TH
Likely inborn error of metabolism
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
MT-TI
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
MT-TK
Likely inborn error of metabolism
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
MT-TL1
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
MT-TL2
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
MT-TM
Likely inborn error of metabolism
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
MT-TN
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
MT-TP
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
MT-TQ
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
MT-TR
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
MT-TS1
Likely inborn error of metabolism
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
MT-TS2
Likely inborn error of metabolism
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
MT-TV
Likely inborn error of metabolism
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
MT-TW
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
MT-TY
Likely inborn error of metabolism
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
MTFMT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MTHFR
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MTHFR
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MTHFS
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MTO1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MTOR
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MTPAP
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MTR
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MTRR
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MTTP
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MUT
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
MUT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
MVK
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MYBPC3
Paediatric or syndromic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MYBPC3
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MYBPC3
Hypertrophic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MYH6
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MYH7
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Awatchlist_moi
Green
MYH7
Paediatric or syndromic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MYH7
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Awatchlist_moi
Green
MYL2
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MYL2
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MYL3
Paediatric or syndromic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MYL3
Hypertrophic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MYLK3
Paediatric or syndromic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Agene-checked
Green
MYPN
Paediatric or syndromic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
NACC1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
NADK2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NAGA
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NAGA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NAGLU
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NAGS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NAPB
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NARS
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Anew-gene-name
Green
NARS2
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NARS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NAXD
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NAXE
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NBEA
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NDE1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/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/AN/A
Green
NDUFA1
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
NDUFA10
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFA10
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFA11
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFA11
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFA12
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFA13
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFA2
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFA2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFA4
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFA6
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFA8
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFA9
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFAF1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFAF1
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFAF2
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFAF2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFAF3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFAF4
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFAF5
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFAF5
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFAF6
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFAF8
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
NDUFB10
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/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/AN/A
Green
NDUFB11
Paediatric or syndromic cardiomyopathy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
NDUFB3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFB8
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFC2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS2
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS4
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS4
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS6
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS7
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS8
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS8
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS8
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFV1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFV1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFV2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFV2
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NEDD4L
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NEU1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NEUROD2
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
NEXMIF
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
NEXN
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AQ2_24_MOI, Q2_24_NHS_review
Green
NEXN
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
NFS1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
NFU1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NGLY1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NGLY1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NHLRC1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NHLRC1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NKX2-5
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NKX2-5
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NKX2-5
Progressive cardiac conduction disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
NNT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NONO
Paediatric or syndromic cardiomyopathy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
NPC1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NPC2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NPRL2
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
NPRL3
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NR4A2
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NRAP
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
NRAS
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
NRROS
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NRXN1
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
NSD1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NSDHL
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/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/AN/A
Green
NSRP1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NSUN3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NT5C3A
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NTRK2
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NUBPL
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NUP214
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NUS1
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
NUS1
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
OAT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OCLN
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OCRL
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
OGDH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OGDHL
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OPA1
Likely inborn error of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
OPA3
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
OPHN1
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
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/AN/A
Green
OTUD6B
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OTUD7A
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OXCT1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OXR1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
P4HTM
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PABPC1
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Agene-checked
Green
PACS1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PACS2
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PAFAH1B1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PAH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PAH
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PAK1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
PANK2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PARS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PARS2
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PC
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PCBD1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PCCA
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PCCA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PCCA
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PCCB
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PCCB
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PCCB
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PCDH12
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PCDH19
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
PCDHGC4
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PCK1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PCSK9
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
PCYT2
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PDHA1
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/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/AN/A
Green
PDHB
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PDHX
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PDHX
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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 phenotypeN/A
Green
PDP1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PDSS1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PDSS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEPD
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PET100
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PET100
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Afounder-effect
Green
PEX1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX10
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX11B
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX12
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX13
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX14
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX16
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX19
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX26
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX5
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX6
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
PEX7
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PFKM
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PGAM2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PGAP2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PGAP3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PGK1
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
PGM1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PGM2L1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PGM3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PHACTR1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
PHGDH
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PHGDH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PHKA1
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
PHKA2
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
PHKB
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PHKG2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PHYH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIDD1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGA
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/ASkewed X-inactivation
Green
PIGA
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/ASkewed X-inactivation
Green
PIGB
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGC
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGG
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGH
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGK
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGL
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGM
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anon-coding-known-pathogenic, promoter
Green
PIGM
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Apromoter, non-coding-known-pathogenic
Green
PIGN
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGN
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGO
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGO
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGP
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGQ
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGT
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGU
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Amissense
Green
PIGV
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGW
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIK3R2
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
PINK1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIP5K1C
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PKP2
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PKP2
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PKP2
Arrhythmogenic right ventricular cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PLA2G6
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Awatchlist_moi
Green
PLA2G6
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PLAA
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PLCB1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PLD1
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AQ2_24_demote_red, Q2_24_expert_review, Q2_24_NHS_review
Green
PLK1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
PLN
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PLN
Arrhythmogenic right ventricular cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Afounder-effect
Green
PLN
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PLN
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PLPBP
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PLXNA1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PMM2
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PMM2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PMPCA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PMPCB
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PMPCB
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PNKP
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PNP
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PNPLA2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PNPLA8
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PNPO
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
PNPO
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PNPT1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PNPT1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POLG
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
POLG
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POLG2
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
POMGNT1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POMGNT1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POMGNT2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POMK
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POMT1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POMT1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POMT2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POR
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PPA2
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PPA2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PPCS
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PPFIBP1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PPIL1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PPOX
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
PPP1CB
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PPP1R13L
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PPP1R3F
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Agene-checked
Green
PPP2CA
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PPP3CA
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PPT1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PPT1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PRICKLE1
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Adisputed, Q1_24_demote_amber, Q1_24_expert_review
Green
PRKAG2
Progressive cardiac conduction disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PRKAG2
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PRKAG2
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PRKAG2
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PRMT7
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PRODH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PRPF8
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PRPS1
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
PRRT2
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PSAP
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PSAP
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PSAT1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PTCD3
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PTCD3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PTEN
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PTPN11
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
PTPN23
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PTS
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PTS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PUM1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PURA
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PUS1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PYCR1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PYGL
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PYGM
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
QARS
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
QDPR
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
QRSL1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RAB11B
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
RAB18
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RAB5C
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
RAC3
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
RAF1
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
RALA
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
RALGAPA1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RARS
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
RARS2
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RARS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RBCK1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RBM20
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
RBM20
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
RBP4
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
RELN
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Amissense
Green
RFT1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RFT1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RHEB
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypesomatic, mosaicism, gene-checked
Green
RHOBTB2
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
RIT1
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
RMND1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RMND1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RNASEH1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RNASEH2A
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RNASEH2B
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RNASEH2C
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RNASET2
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RNF113A
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/ASkewed X-inactivation
Green
RNF13
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
ROGDI
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RORA
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RORB
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RPIA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RPL10
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
RRAGC
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
RRAGD
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
RRM2B
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
RTN4IP1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RTN4IP1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RTTN
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RYR2
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
RYR2
Catecholaminergic polymorphic VT
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RYR2
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SACS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SAMHD1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SAMHD1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SAR1B
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SARS
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Awatchlist_moi, new-gene-name
Green
SARS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SATB1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SATB2
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SC5D
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SCAF4
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SCAMP5
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOthergene-checked
Green
SCARB2
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SCN1A
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SCN1B
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SCN2A
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SCN3A
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SCN5A
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SCN5A
Long QT syndrome
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SCN5A
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SCN5A
Progressive cardiac conduction disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SCN5A
Brugada syndrome and cardiac sodium channel disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SCN8A
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
SCO1
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SCO1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SCO2
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SCO2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SCP2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SDHA
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SDHAF1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SDHB
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SDHD
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SEC23B
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SEMA6B
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
SEPSECS
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SERAC1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SERPINI1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SETBP1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SETD1A
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SETD1B
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SETD5
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SETX
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SFXN4
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SGSH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SGSH
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SHMT2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SHOC2
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
SHQ1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SI
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SIK1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SKIV2L
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
SLC12A3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Amonogenic-polygenic
Green
SLC12A5
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
SLC13A5
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC16A1
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SLC16A2
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
SLC17A5
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC18A2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC19A2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC19A3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC1A2
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SLC1A4
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC22A5
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC22A5
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A12
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A12
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A13
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A15
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A19
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A20
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A20
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A22
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A22
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A26
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A32
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
SLC25A38
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A4
Paediatric or syndromic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SLC25A4
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SLC25A42
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A46
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC2A1
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SLC2A1
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Atreatable
Green
SLC2A2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC30A10
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC32A1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SLC35A1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC35A2
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/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/AN/A
Green
SLC35C1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC35D1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC37A4
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SLC38A3
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC39A14
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC39A4
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC39A8
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC39A8
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC3A1
Likely inborn error of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
SLC40A1
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SLC46A1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC52A2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC52A3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC5A1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC5A6
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC6A1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SLC6A19
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AQ2_24_NHS_review, Q2_24_MOI, Q2_24_expert_review
Green
SLC6A3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC6A8
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
SLC6A8
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
SLC7A7
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC7A9
Likely inborn error of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
SLC9A6
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
SMARCA2
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SMARCC2
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SMC1A
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
SMPD1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SMS
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
SNAP25
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SNIP1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Afounder-effect
Green
SNORD118
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Alocus-type-small-nucleolar
Green
SOS1
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
SOS2
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
SPATA5
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
SPATA5L1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked, new-gene-name
Green
SPEG
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SPG7
Likely inborn error of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
SPR
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
SPRED2
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SPTAN1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SPTBN1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SPTLC1
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SPTLC2
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SRD5A3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SSBP1
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SSR4
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
ST3GAL3
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ST3GAL3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ST3GAL5
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ST3GAL5
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
STAG1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
STAMBP
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
STRADA
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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/AN/A
Green
STT3A
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
STX1B
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
STXBP1
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SUCLA2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SUCLA2
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SUCLG1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SUMF1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SUOX
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SUOX
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SURF1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SURF1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SYN1
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
SYNGAP1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SYNJ1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SZT2
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TAB2
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TACO1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TAF8
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TALDO1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TANGO2
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TANGO2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TARS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TAT
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TAZ
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Anew-gene-name
Green
TAZ
Paediatric or syndromic cardiomyopathy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Anew-gene-name
Green
TBC1D24
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TBC1D2B
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
TBCD
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TBCK
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TBL1XR1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TBX20
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TCF4
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TCN2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TDP2
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TECRL
Catecholaminergic polymorphic VT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TFAM
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TFE3
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/ASkewed X-inactivation
Green
TFR2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
TIAM1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TIMM50
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TIMM50
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TIMM8A
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
TIMMDC1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TK2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM126B
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM165
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM199
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM222
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
TMEM43
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TMEM43
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TMEM43
Arrhythmogenic right ventricular cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TMEM5
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
TMEM63B
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
TMEM70
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM70
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMX2
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TNNC1
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TNNC1
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TNNC1
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TNNI3
Hypertrophic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
TNNI3
Dilated and arrhythmogenic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
TNNI3
Paediatric or syndromic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
TNNI3K
Progressive cardiac conduction disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TNNI3K
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TNNI3K
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TNNT2
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TNNT2
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TNNT2
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TNPO2
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TOP3A
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TPK1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TPM1
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TPM1
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TPM1
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TPP1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TPP1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRA2B
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
TRAK1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRAP1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
TRAPPC12
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRAPPC4
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRDN
Catecholaminergic polymorphic VT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TREX1
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
TREX1
Early onset or syndromic epilepsy
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
TRIM37
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRIM63
Hypertrophic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
TRIM8
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TRIT1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
TRIT1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
TRMT10C
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRMT5
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRMU
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRNT1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRPM3
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypemissense
Green
TRPM6
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRPM6
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TSC1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amosaicism
Green
TSC2
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TSEN54
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TSFM
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TSFM
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TTC19
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TTC37
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
TTN
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TTN
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TTPA
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TTR
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Atreatable
Green
TTR
Progressive cardiac conduction disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TTR
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TUBA1A
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TUBB2A
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TUBB2B
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TUBB3
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TUBB4A
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TUBG1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TUBGCP2
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
TUFM
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TUSC3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TWNK
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
TYMP
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
U2AF2
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
UBA5
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UBAP2L
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
UBE2A
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
UBE3A
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)N/AN/A
Green
UBR7
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UFM1
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UFSP2
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalLoss-of-function variants DO NOT cause this phenotypefounder-effect
Green
UGDH
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UGP2
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UGT1A1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UMOD
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
UMPS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UNC80
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UPB1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UQCC2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UQCRB
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UQCRC2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UQCRFS1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UROD
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
UROS
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
USP18
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
VAMP2
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
VARS
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
VARS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
VCL
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
VCL
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
VIPAS39
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
VKORC1
Likely inborn error of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
VPS11
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
VPS16
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
VPS33A
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
VPS33B
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WARS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WARS2
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WASF1
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
WDR37
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypemissense, gene-checked
Green
WDR45
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/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/AN/A
Green
WDR45B
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WDR73
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WFS1
Likely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
WNK3
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
WWOX
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
XDH
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
XPNPEP3
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
XYLT1
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
XYLT2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
YARS2
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
YIPF5
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
YWHAG
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ZBTB18
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ZBTB47
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
ZDHHC9
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
ZEB2
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ZNF142
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ZNF335
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalN/AN/A