Genomics England
GMS Panels
Panels
Genes and Entities

Early onset or syndromic epilepsy (Version: )

Relevant disorders: Epilepsy Plus, Epilepsy plus other features, Genetic Epilepsy Syndromes, Epileptic encephalopathy, Familial Focal Epilepsies, Familial Genetic Generalised Epilepsies, Genetic Epilepsies with Febrile Seizures Plus (GEFS+), Genetic Epilepsies with Febrile Seizures Plus, Early onset or syndromic epilepsy, Genetic epilepsy syndromes, R59
Signed off date: 22 Mar 2023
Panel types: Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off
See this panel in PanelApp
540 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
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AARS
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
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ABAT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ACOX1
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
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ACTL6B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ADAR
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ADARB1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ADGRG1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ADPRHL2
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
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ADSL
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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AFF3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypemissense
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AIMP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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AKT3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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ALDH5A1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ALDH7A1
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
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ALG1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ALG11
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALG13
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
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ALG14
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ALG3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ALG6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ALG8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ALG9
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ALKBH8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ALPL
BIALLELIC, autosomal or pseudoautosomalN/Adrug-indication
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AMPD2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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AMT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ANKRD11
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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AP1G1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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AP2M1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthermissense
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AP3B2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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APC2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ARF1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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ARFGEF1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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ARFGEF2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ARG1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ARHGEF9
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
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ARID1B
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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ARV1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ARX
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
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ASAH1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ASH1L
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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ASNS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ASPA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ATN1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
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ATN1_CAG
STR		MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/ASTR
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ATP1A1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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ATP1A2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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ATP1A3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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ATP6V0A1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Awatchlist_moi
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ATP6V0A2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ATP6V1A
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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ATP7A
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
ATRX
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
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BCKDHA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BCKDHB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BCS1L
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BOLA3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BRAF
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
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BRAT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BSCL2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BTD
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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C12orf57
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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CACNA1A
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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CACNA1B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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CACNA1C
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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CACNA1D
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
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CACNA1E
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
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CACNA1G
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypemissense
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CACNA1I
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
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CACNA2D2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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CACNB4
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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CAD
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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CARS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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CASK
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
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CC2D2A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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CDK19
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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CDKL5
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
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CELF2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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CEP85L
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
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CERS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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CHD2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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CHD5
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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CHKA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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CHRNA2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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CHRNA4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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CHRNB2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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CIC
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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CLCN3
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalOtherN/A
Green
CLCN4
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
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CLN3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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CLN8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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CLPB
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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CLTC
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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CNKSR2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
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CNNM2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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CNPY3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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CNTNAP2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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COG7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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COL18A1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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COL4A1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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COL4A2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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COQ2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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COQ4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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COQ9
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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CPA6
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Ato_be_confirmed_NHSE, for-review
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CREBBP
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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CSNK2B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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CSTB
BIALLELIC, autosomal or pseudoautosomalN/Anucleotide-repeat-expansion
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CSTB_CCCCGCCCCGCG
STR		BIALLELIC, autosomal or pseudoautosomalN/ASTR
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CTNNA2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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CTSD
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CUL3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CUL4B
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
CUX2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AQ1_23_MOI, Q1_23_NHS_review
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CYFIP2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
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D2HGDH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DBT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DCX
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
DDC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDX3X
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
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DEAF1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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DEGS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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DENND5A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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DEPDC5
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AQ1_23_MOI
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DHDDS
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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DHPS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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DHX30
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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DIAPH1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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DLL1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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DMXL2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DNM1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Awatchlist_moi
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DNM1L
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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DOCK7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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DPAGT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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DPM1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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DPYD
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DROSHA
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypegene-checked, locus-type-rna-micro
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DTYMK
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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DYNC1H1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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DYRK1A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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EARS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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EEF1A2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
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EFTUD2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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EHMT1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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EIF2B1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EIF2B2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EIF2B3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EIF2B4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EIF2B5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EIF2S3
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
EIF3F
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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EMC10
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EML1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EPG5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EPM2A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ETHE1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EXOSC3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FAR1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
FARS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FASTKD2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FBXL4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FBXO11
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FBXO28
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FGF12
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
FGF13
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
FKTN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FLNA
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
FOLR1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FOXG1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
FRRS1L
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FUCA1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FUT8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GABBR2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GABRA1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GABRA2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amissense
Green
GABRA5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amissense
Green
GABRB2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GABRB3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GABRD
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
GABRG2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GAD1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GALC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GALNT2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GAMT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GBA
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
GFAP
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GLB1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GLDC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GLRA2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)OtherN/A
Green
GLUD1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GLUL
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GM2A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GNAO1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GNAQ
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypemosaicism, somatic
Green
GNB1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
GNB5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GOSR2
BIALLELIC, autosomal or pseudoautosomalN/Afounder-effect
Green
GOT2
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
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GPAA1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GPHN
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
GRIA4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GRIK2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
GRIN1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
GRIN2A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GRIN2B
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GRIN2D
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GRN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GTPBP2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
H3F3A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Anew-gene-name
Green
H3F3B
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Anew-gene-name
Green
HACE1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HAX1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HCFC1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
HCN1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
HCN2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
HECW2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
HEPACAM
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HERC2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HEXA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HEXB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HID1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HMGCL
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HNRNPH2
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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
HNRNPU
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
HPDL
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
HRAS
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
HSD17B4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HTRA2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IER3IP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IFIH1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
IKBKG
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
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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37404-Loss
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37411-Loss
15q13.3 recurrent region (BP4-BP5) (includes CHRNA7) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37415-Loss
16p13.11 recurrent region (includes MYH11) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37423-Gain
8p23.1 recurrent region (includes GATA4) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Awatchlist
Green
ISCA-37429-Loss
4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37430-Loss
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
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37433-Loss
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
1p36 terminal region (includes GABRD) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37446-Loss
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
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37478-Loss
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37493-Loss
1q43q44 terminal region (includes AKT3) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-46290-Gain
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
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
16p12.2 recurrent region (distal)(includes OTOA) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-46304-Gain
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
ITPA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KARS
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
KAT5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KAT8
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthermissense, watchlist_moi
Green
KCNA2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KCNB1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KCNC1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KCNC2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KCND2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypegene-checked
Green
KCNH1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KCNJ10
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KCNJ11
BOTH monoallelic and biallelic, autosomal or pseudoautosomalLoss-of-function variants DO NOT cause this phenotypeN/A
Green
KCNK4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
KCNMA1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
KCNQ2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KCNQ3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KCNQ5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KCNT1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KCNT2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KCTD3
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
KCTD7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KIAA1109
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
KIF1A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KIF2A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KIF5C
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KMT2E
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KRAS
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
LARS
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
LGI1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
LIAS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LMBRD2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypegene-checked
Green
MACF1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
MADD
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MAF
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MAGI2
BIALLELIC, autosomal or pseudoautosomalN/Acnv, Q1_23_demote_red
Green
MAP2K1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MAP2K2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MBD5
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MBOAT7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MDH2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MECP2
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
MED12
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
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MEF2C
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MFF
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MFSD8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MINPP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MLC1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MMACHC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MMADHC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MOCS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MOCS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MOGS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MPDU1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MTHFR
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MTHFS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MTOR
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NACC1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
NAGA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NAPB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NARS
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Anew-gene-name
Green
NARS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NBEA
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NDE1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFA1
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
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFAF2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFAF5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFS8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NDUFV1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NEUROD2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
NEXMIF
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
NGLY1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NHLRC1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NPRL2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
NPRL3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NR4A2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NRROS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NRXN1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
NSD1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NSDHL
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
NSRP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NTRK2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
NUS1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
OCLN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OGDHL
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OPHN1
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
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OXR1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
P4HTM
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PACS1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PACS2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PAFAH1B1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PAH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PAK1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
PARS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PCCA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PCCB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PCDH12
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PCDH19
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
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PCYT2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PDHA1
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
PDHX
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PET100
BIALLELIC, autosomal or pseudoautosomalN/Afounder-effect
Green
PGM2L1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PHACTR1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
PHGDH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIDD1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGA
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/ASkewed X-inactivation
Green
PIGB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGG
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGK
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGO
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGQ
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIGU
BIALLELIC, autosomal or pseudoautosomalN/Amissense
Green
PIGW
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PIK3R2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
PLAA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PLCB1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PLPBP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PMM2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PMPCB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PNKP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PNPO
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
PNPT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POLG
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POMGNT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POMT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PPIL1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PPP2CA
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PPP3CA
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PPT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PRICKLE1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
PRMT7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PRPF8
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PRRT2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PSAP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PTEN
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PTPN23
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PTS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PUM1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PURA
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
QARS
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
RAB11B
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
RAB18
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RALA
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
RALGAPA1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RARS
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
RARS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RELN
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Amissense
Green
RFT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RHOBTB2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
RMND1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RNASEH2A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RNASEH2B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RNASEH2C
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RNASET2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RNF113A
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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
ROGDI
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RORA
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RORB
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RTN4IP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RTTN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SAMHD1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SATB1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SCAF4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
Green
SCAMP5
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOthergene-checked
Green
SCARB2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SCN1A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SCN1B
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SCN2A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SCN3A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SCN8A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherto_be_confirmed_NHSE, for-review
Green
SEMA6B
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
SEPSECS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SERPINI1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SETBP1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SETD1A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SETD1B
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SETD5
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SGSH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SIK1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SLC12A5
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
SLC13A5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC16A2
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
SLC1A2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SLC1A4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A12
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC25A22
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC2A1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Atreatable
Green
SLC35A2
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
SLC38A3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC6A1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SLC6A8
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
SLC9A6
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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SMARCC2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SMC1A
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
SMS
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
SNAP25
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SNIP1
BIALLELIC, autosomal or pseudoautosomalN/Afounder-effect
Green
SNORD118
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SPATA5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SPATA5L1
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
SPTAN1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SPTBN1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ST3GAL5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
STAG1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
STAMBP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
STRADA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
STX1B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
STXBP1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AQ1_23_MOI
Green
SUCLA2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SUOX
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SURF1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SYN1
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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SYNJ1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SZT2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TAF8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TANGO2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TBC1D24
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TBC1D2B
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
TBCD
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TBCK
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TBL1XR1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TCF4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TDP2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TFE3
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
TIAM1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TIMM50
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM222
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
TMX2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TNPO2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TPP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRAK1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRAPPC12
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRAPPC4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TREX1
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
TRIM8
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TRPM3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypemissense
Green
TRPM6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TSC1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amosaicism
Green
TSC2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TSEN54
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TUBA1A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TUBB2A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TUBB2B
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TUBB3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TUBB4A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TUBG1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TUBGCP2
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
UBA5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UBE2A
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
UBE3A
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)N/AN/A
Green
UBR7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UFM1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UFSP2
BIALLELIC, autosomal or pseudoautosomalLoss-of-function variants DO NOT cause this phenotypefounder-effect
Green
UGDH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UGP2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UNC80
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
USP18
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
VAMP2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
VARS
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
VPS11
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WARS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WASF1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
WDR37
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypemissense, gene-checked
Green
WDR45
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
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WDR73
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WNK3
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Agene-checked
Green
WWOX
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
YIPF5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
YWHAG
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ZBTB18
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ZDHHC9
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
ZEB2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ZNF142
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ZNF335
BIALLELIC, autosomal or pseudoautosomalN/AN/A