Genes associated with “epilepsy

252 genes foundHPO: Sudden unexpected death in epilepsyOpen Targets: epilepsy1 PanelApp panel
How are genes scored? (0–100 composite)
-5–15
ClinGen
0–15
HPO Freq
0–15
Open Targets
0–12
Phen2Gene
0–10
ClinVar
0–8
Constraint
0–8
Dosage
0–8
OMIM CS
0–8
PanelApp
0–5
OMIM
0–5
G2P
0–4
Breadth
Tiers:Strong Candidates (≥20)Consider (≥8)Possible (≥3)
Evidence dots:
HPOClinVarPhen2GeneOpen TargetsPanelApp
hover for details

Strong Candidates

81 genes
1
SCN1A

sodium voltage-gated channel alpha subunit 1

62
score
ClinGen: DefinitivePanel: GreenGTR ↑

Sudden unexpected death in epilepsy

Frequency
11%
n=9
P/LP Variants
8
OT Score
0.93
2
SYNGAP1

synaptic Ras GTPase activating protein 1

59
score
ClinGen: DefinitivePanel: GreenGTR ↑
Frequency
-
P/LP Variants
8
OT Score
0.82
3
KCNQ2

potassium voltage-gated channel subfamily Q member 2

57
score
ClinGen: DefinitivePanel: GreenGTR ↑
Frequency
-
P/LP Variants
8
OT Score
0.86
4
STXBP1

syntaxin binding protein 1

53
score
ClinGen: DefinitivePanel: GreenGTR ↑
Frequency
-
P/LP Variants
2
OT Score
0.87
5
GRIN2B

glutamate ionotropic receptor NMDA type subunit 2B

53
score
ClinGen: DefinitivePanel: GreenGTR ↑
Frequency
-
P/LP Variants
10
OT Score
0.81
6
GABRA1

gamma-aminobutyric acid type A receptor subunit alpha1

52
score
ClinGen: DefinitivePanel: GreenGTR ↑
Frequency
-
P/LP Variants
4
OT Score
0.89
7
SCN8A

sodium voltage-gated channel alpha subunit 8

52
score
ClinGen: DefinitivePanel: GreenGTR ↑

Sudden unexpected death in epilepsy

Frequency
0%
n=7
P/LP Variants
1
OT Score
0.90
8
PCDH19

protocadherin 19

51
score
ClinGen: DefinitivePanel: GreenGTR ↑
Frequency
-
P/LP Variants
16
OT Score
0.86
9
GABRB3

gamma-aminobutyric acid type A receptor subunit beta3

49
score
ClinGen: DefinitivePanel: GreenGTR ↑
Frequency
-
P/LP Variants
5
OT Score
0.89
49GRIN2A
DefP:G

glutamate ionotropic receptor NMDA type subunit 2A

49DEPDC5
DefP:G

DEP domain containing 5, GATOR1 subcomplex subunit

48SPTAN1
DefP:G

spectrin alpha, non-erythrocytic 1

46LGI1
DefP:G

leucine rich glioma inactivated 1

46WWOX
DefP:G

Sudden unexpected death in epilepsy

46SCN3A
DefP:G

sodium voltage-gated channel alpha subunit 3

45GABRG2
DefP:G

gamma-aminobutyric acid type A receptor subunit gamma2

45KCNT1
DefP:G

potassium sodium-activated channel subfamily T member 1

45CDKL5
DefP:G

cyclin dependent kinase like 5

45ALDH7A1
DefP:G

aldehyde dehydrogenase 7 family member A1

43PRRT2
DefP:G

proline rich transmembrane protein 2

43SCN2A
DefP:G

sodium voltage-gated channel alpha subunit 2

42EEF1A2
DefP:G

eukaryotic translation elongation factor 1 alpha 2

41KCTD7
DefP:G

potassium channel tetramerization domain containing 7

41CHD2
DefP:G

chromodomain helicase DNA binding protein 2

38NBEA
DefP:G
38NPRL3
DefP:G
37SYN1
DefP:G
37ZEB2
DefP:G

zinc finger E-box binding homeobox 2

36DNM1
DefP:G

dynamin 1

36PLCB1
DefP:G

phospholipase C beta 1

35ARX
DefP:G

aristaless related homeobox

35ARHGEF9
DefP:G
34TBC1D24
DefP:G

Sudden unexpected death in epilepsy

34GLDC
DefP:G
34GABRB2
DefP:G

gamma-aminobutyric acid type A receptor subunit beta2

34CACNA1E
DefP:G

calcium voltage-gated channel subunit alpha1 E

34KCNMA1
DefP:G

potassium calcium-activated channel subfamily M alpha 1

33PIGA
DefP:G

phosphatidylinositol glycan anchor biosynthesis class A

33PNKP
DefP:G

polynucleotide kinase 3'-phosphatase

33SCN1B
DefP:G

sodium voltage-gated channel beta subunit 1

33UBA5
DefP:G

ubiquitin like modifier activating enzyme 5

33CNTN2
DefP:G
33PPP3CA
DefP:G

protein phosphatase 3 catalytic subunit alpha

33SZT2
DefP:G

SZT2 subunit of KICSTOR complex

33SLC12A5
LimP:G

solute carrier family 12 member 5

33GRIN2D
DefP:G

glutamate ionotropic receptor NMDA type subunit 2D

33PNPO
DefP:G

pyridoxamine 5'-phosphate oxidase

33DYRK1A
DefP:G
32CNOT1
Def
31AMT
DefP:G
31CNTNAP2
DefP:G
31DLG4
Def
31GRIN1
DefP:G
31KCNC1
DefP:G
30PIGQ
DefP:G
29CSNK2B
DefP:G
29EPM2A
DefP:G

EPM2A glucan phosphatase, laforin

29STX1B
DefP:G
27GOSR2
DefP:G
27KCNQ3
DefP:G
27GABRA5
P:G

gamma-aminobutyric acid type A receptor subunit alpha5

27HNRNPK
Def
27KMT2E
DefP:G
27MEF2C
DefP:G
27SMC1A
DefP:G
27CSTB
DefP:G

cystatin B

27NHLRC1
DefP:G

NHL repeat containing E3 ubiquitin protein ligase 1

25GRIA2
DefP:G
25KPTN
DefP:G
25NEXMIF
DefP:G
25GNAO1
DefP:G

G protein subunit alpha o1

24GNAI1
Def
24SLC2A1
DefP:G

solute carrier family 2 member 1

22RELN
DefP:G
21AFG2A
Def
21CACNA1A
P:G

calcium voltage-gated channel subunit alpha1 A

21ARID1B
DefP:G
21SLC6A8
DefP:G
20GABRB1
LimP:G

gamma-aminobutyric acid type A receptor subunit beta1

20SLC6A1
P:G
20EFTUD2
DefP:G

Consider

74 genes
19DYNC1H1
DefP:G
19EHMT1
DefP:G
19GAMT
DefP:G
19MLC1
DefP:G
18GABRA2
P:G

gamma-aminobutyric acid type A receptor subunit alpha2

16CLPB
LimP:G
16RAB3GAP2
DefP:A
16TET3
DefP:A
16CACNA1B
ModP:G
16PRICKLE1
LimP:A
15KCNA1
DefP:G
15CASK
DefP:G
15KMT2A
Def
15SHANK3
Def
15TCF4
DefP:G
15WDR62
DefP:A
14SLC35A3
P:A
13RAB3GAP1
DefP:A
13USP7
DefP:A
13ASAH1
DefP:G
13BTD
DefSFP:G
13CLCN4
DefP:G
13COL4A1
DefP:G

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1; DEE1

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2; DEE2

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36; DEE36

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 8; DEE8

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9; DEE9

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90

EPILEPSY, X-LINKED 1, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS; EPILX1

EPILEPSY, X-LINKED 2, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSMORPHIC FEATURES; EPILX2

13FGFR3
DefP:G
13FOXP1
Def
13IVD
Def
13KANSL1
Def

MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF

13MTOR
DefP:G

NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH

13NGLY1
DefP:G
13PIGN
DefP:G
13ROGDI
DefP:G
13RS1
Def

SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY; SMAPME

SPASTIC PARAPLEGIA, EPILEPSY, AND IMPAIRED INTELLECTUAL DEVELOPMENT; SPEMR

13UBE3A
DefP:G
12HACE1
P:G
12SUCLG1
ModP:A
11NR2F1
Def
11WDR26
Def
11MTR
DefP:A
11SCO2
DefP:A
10CDK19
P:G
10DEAF1
P:G
10HERC2
P:G
10NARS1
Mod
10NEUROD2
P:G
10PLPBP
P:G
10SEPSECS
P:G
10STRADA
P:G
10TSEN54
P:G
9BICRA
Def
9ADGRV1
DefP:R
9ARID2
Def
9GATM
DefP:R
9PHF6
Def
9RTEL1
DefP:R
9SON
Def
8TSEN2
P:A
8ZMYM2
P:A

Possible

95 genes — click to expand
7SHQ1
P:G

Sudden unexpected death in epilepsy

7AFG3L2
Def
7ARSA
Def
7CCDC40
Def
7CSF1R
Def
7DARS2
Def
7ECHS1
Def
7HAAO
Def
7MAGEL2
Def
7OCA2
Def
7SCN9A
RefP:R
7TYMP
Def
7CPLX1
P:G

Sudden unexpected death in epilepsy

7UBR7
P:G

Sudden unexpected death in epilepsy

6FIG4
DefP:R

Sudden unexpected death in epilepsy

Sudden unexpected death in epilepsy

6MED23
Mod
6SBF1
Mod

EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13; EIG13

EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1

EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2; FAME2

5GUF1
P:A

Sudden unexpected death in epilepsy

4CPT1B
No

Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.