Genes associated with “epilepsy

405 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
14
OT Score
0.93
2
SYNGAP1

synaptic Ras GTPase activating protein 1

59
score
ClinGen: DefinitivePanel: GreenGTR ↑
Frequency
-
P/LP Variants
12
OT Score
0.82
3
SCN8A

sodium voltage-gated channel alpha subunit 8

58
score
ClinGen: DefinitivePanel: GreenGTR ↑

Sudden unexpected death in epilepsy

Frequency
0%
n=7
P/LP Variants
7
OT Score
0.90
4
SCN2A

sodium voltage-gated channel alpha subunit 2

57
score
ClinGen: DefinitivePanel: GreenGTR ↑
Frequency
-
P/LP Variants
2
OT Score
0.91
5
KCNQ2

potassium voltage-gated channel subfamily Q member 2

57
score
ClinGen: DefinitivePanel: GreenGTR ↑
Frequency
-
P/LP Variants
10
OT Score
0.85
6
STXBP1

syntaxin binding protein 1

56
score
ClinGen: DefinitivePanel: GreenGTR ↑
Frequency
-
P/LP Variants
4
OT Score
0.86
7
GRIN2B

glutamate ionotropic receptor NMDA type subunit 2B

53
score
ClinGen: DefinitivePanel: GreenGTR ↑
Frequency
-
P/LP Variants
8
OT Score
0.81
8
PCDH19

protocadherin 19

51
score
ClinGen: DefinitivePanel: GreenGTR ↑
Frequency
-
P/LP Variants
10
OT Score
0.86
9
DEPDC5

DEP domain containing 5, GATOR1 subcomplex subunit

49
score
ClinGen: DefinitivePanel: GreenGTR ↑
Frequency
-
P/LP Variants
9
OT Score
0.86
49GABRA1
DefP:G

gamma-aminobutyric acid type A receptor subunit alpha1

49GRIN2A
DefP:G

glutamate ionotropic receptor NMDA type subunit 2A

47SPTAN1
DefP:G

spectrin alpha, non-erythrocytic 1

47GABRB3
DefP:G

gamma-aminobutyric acid type A receptor subunit beta3

46SCN3A
DefP:G

sodium voltage-gated channel alpha subunit 3

45CDKL5
DefP:G

cyclin dependent kinase like 5

45PRRT2
DefP:G

proline rich transmembrane protein 2

45ALDH7A1
DefP:G

aldehyde dehydrogenase 7 family member A1

45GABRG2
DefP:G

gamma-aminobutyric acid type A receptor subunit gamma2

45EEF1A2
DefP:G

eukaryotic translation elongation factor 1 alpha 2

44KCNT1
DefP:G

potassium sodium-activated channel subfamily T member 1

44WWOX
DefP:G

Sudden unexpected death in epilepsy

42LGI1
DefP:G

leucine rich glioma inactivated 1

41CHD2
DefP:G

chromodomain helicase DNA binding protein 2

39CACNA1A
P:G

calcium voltage-gated channel subunit alpha1 A

39SLC2A1
DefP:G

solute carrier family 2 member 1

39NBEA
DefP:G
37RELN
DefP:G

reelin

37ARHGEF9
DefP:G
37NPRL3
DefP:G
37ZEB2
DefP:G

zinc finger E-box binding homeobox 2

36KCTD7
DefP:G

potassium channel tetramerization domain containing 7

36DNM1
DefP:G

dynamin 1

36PLCB1
DefP:G

phospholipase C beta 1

35ARX
DefP:G

aristaless related homeobox

34TBC1D24
DefP:G

Sudden unexpected death in epilepsy

34GLDC
DefP:G
34GABRB2
DefP:G

gamma-aminobutyric acid type A receptor subunit beta2

34PNKP
DefP:G

polynucleotide kinase 3'-phosphatase

34CACNA1E
DefP:G

calcium voltage-gated channel subunit alpha1 E

33PIGA
DefP:G

phosphatidylinositol glycan anchor biosynthesis class A

33PPP3CA
DefP:G

protein phosphatase 3 catalytic subunit alpha

33UBA5
DefP:G

ubiquitin like modifier activating enzyme 5

33PNPO
DefP:G

pyridoxamine 5'-phosphate oxidase

33SCN1B
DefP:G

sodium voltage-gated channel beta subunit 1

33SCARB2
DefP:G

scavenger receptor class B member 2

33CNOT1
Def
33DYRK1A
DefP:G
31AMT
DefP:G
31DLG4
Def
31KCNC1
DefP:G
31KMT2E
DefP:G
31EPM2A
DefP:G

EPM2A glucan phosphatase, laforin

30CSNK2B
DefP:G
30GRIN1
DefP:G
28BRAT1
DefP:G
28CNTN2
DefP:G
27GABRA5
P:G

gamma-aminobutyric acid type A receptor subunit alpha5

27HNRNPK
Def
27MEF2C
DefP:G
27SMC1A
DefP:G
27NHLRC1
DefP:G

NHL repeat containing E3 ubiquitin protein ligase 1

25CNTNAP2
DefP:G
25GRIA2
DefP:G
25HNRNPH2
DefP:G
25KPTN
DefP:G
25PIGQ
DefP:G
25STX1B
DefP:G
24GNAO1
DefP:G

G protein subunit alpha o1

24GNAI1
Def
23ANKRD17
Def
23SLC6A1
P:G
23ZMYM2
DefP:A
22CSTB
DefP:G

cystatin B

21KCNMA1
DefP:G

potassium calcium-activated channel subfamily M alpha 1

21ARID1B
DefP:G
21EFTUD2
DefP:G
21SLC6A8
DefP:G
20GABRB1
LimP:G

gamma-aminobutyric acid type A receptor subunit beta1

20SLC12A5
LimP:G

solute carrier family 12 member 5

20AFG2A
Def
20RFX3
Def

Consider

99 genes
19CACNA1C
DefP:G
19EHMT1
DefP:G
19GAMT
DefP:G
19MLC1
DefP:G
19SHANK3
DefP:A
18GABRA2
P:G

gamma-aminobutyric acid type A receptor subunit alpha2

17DYNC1H1
DefP:G
17MTOR
DefP:G
17TET3
DefP:A
17WDR62
DefP:A
16RAB3GAP1
DefP:A
16USP7
DefP:A
16CACNA1B
ModP:G
15FGFR3
DefP:G
15ST3GAL5
DefP:G
15ANKRD11
DefP:G
15CASK
DefP:G
15FOXP1
Def
15KANSL1
Def
15KMT2A
Def
15NR2F1
Def
15RAB3GAP2
DefP:A
15SCO2
DefP:A
15TCF4
DefP:G
14ARID2
Def
14HACE1
P:G
14SLC35A3
P:A
13CLPB
LimP:G
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 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

13FOLR1
DefP:G
13IVD
Def
13KCNA1
DefP:G

MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF

NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH

13NGLY1
DefP:G
13PIGN
DefP:G

SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY; SMAPME

13SMARCA2
DefP:G

SPASTIC PARAPLEGIA, EPILEPSY, AND IMPAIRED INTELLECTUAL DEVELOPMENT; SPEMR

13TDP2
DefP:G
13UBE3A
DefP:G
12NARS1
Mod
12PRICKLE1
LimP:A
11PHF6
Def
11WDR26
Def
11MED23
Mod
11AIMP2
DefP:A
11ARSA
Def
11BICRA
Def
11TMEM106B
DefP:A
11TYMP
Def
11VLDLR
DefP:A
10TSEN2
P:A
10CDK19
P:G
10DEAF1
P:G
10ELFN1
P:G
10HERC2
P:G
10NEUROD2
P:G
10SBF1
Mod
10SEPSECS
P:G
10TSEN54
P:G
9ACTB
Def
9DPF2
Def
9HAAO
Def
9ADGRV1
DefP:R
9ALG12
DefP:R
9FBN1
DefSF
9RS1
Def
9RTEL1
DefP:R
9SON
Def
8CPT1B
No
8KCNB2
P:A

Possible

223 genes — click to expand
7SHQ1
P:G

Sudden unexpected death in epilepsy

7AFG3L2
Def
7AP5Z1
Def
7CARD11
Def
7CCDC40
Def
7COXFA4
Def
7DARS2
Def
7DMRT1
Def
7DNAAF5
Def
7DOCK8
Def
7ECHS1
Def
7FAM20C
Def
7KCNV2
Def
7KYNU
Def
7MAGEL2
Def
7OCA2
Def
7PMS2
DefSF
7RAC1
Def
7CPLX1
P:G

Sudden unexpected death in epilepsy

7GUF1
LimP:A

Sudden unexpected death in epilepsy

7UBR7
P:G

Sudden unexpected death in epilepsy

6FIG4
DefP:R

Sudden unexpected death in epilepsy

6SCN9A
RefP:R

Sudden unexpected death in epilepsy

EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13; EIG13

EPILEPSY, EARLY-ONSET, 5, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEO5

EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1

EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1; FAME1

EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2; FAME2

5SLC1A1
Lim

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