Genes associated with “seizures

208 genes foundOpen Targets: Seizure
Some sources returned errors (1)

hpo: Error: Monarch API: 502

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

18 genes
1
SCN1A

sodium voltage-gated channel alpha subunit 1

51
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
3
OT Score
0.79
2
KCNQ2

potassium voltage-gated channel subfamily Q member 2

46
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
3
OT Score
0.69
3
GABRG2

gamma-aminobutyric acid type A receptor subunit gamma2

37
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
5
OT Score
0.75
4
SCN2A

sodium voltage-gated channel alpha subunit 2

35
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
14
OT Score
0.79
5
SCN3A

sodium voltage-gated channel alpha subunit 3

35
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
1
OT Score
0.72
6
SCN8A

sodium voltage-gated channel alpha subunit 8

30
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
2
OT Score
0.75
7
CACNA1B

calcium voltage-gated channel subunit alpha1 B

28
score
ClinGen: ModerateGTR ↑
Frequency
-
P/LP Variants
84
OT Score
0.72
27
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
1
OT Score
-
25
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
6
OT Score
-
25GABRB3
Def

gamma-aminobutyric acid type A receptor subunit beta3

25GABRA1
Def

gamma-aminobutyric acid type A receptor subunit alpha1

24BRAT1
Def
24KCNT1
Def
21PRRT2
Def
20CNNM2
Def
20DEPDC5
Def
20PNPO
Def
20VARS1
Def

Consider

115 genes

solute carrier family 6 member 1

19CASK
Def
19CHD7
Def
17TSC2
DefSF
17SCN9A
Ref

sodium voltage-gated channel alpha subunit 9

15CHD2
Def
15GRIN2B
Def
15KMT2D
Def
15RPS6KA3
Def
15GRIA4
Mod

glutamate ionotropic receptor AMPA type subunit 4

15SLC2A1
Def

solute carrier family 2 member 1

calcium voltage-gated channel auxiliary subunit alpha2delta 1

14NFIX
Def
14SCN4A
Def

sodium voltage-gated channel alpha subunit 4

HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1

13GABRB2
Def

gamma-aminobutyric acid type A receptor subunit beta2

13ADGRV1
Def

adhesion G protein-coupled receptor V1

13AHDC1
Def
13ARX
Def
13ATP7B
DefSF

SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1

SEIZURES, BENIGN FAMILIAL NEONATAL, 2; BFNS2

13DDX3X
Def
13DNMT3A
Def

DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; DOORS

Febrile seizures, familial, 1

FEBRILE SEIZURES, FAMILIAL, 11; FEB11

Generalized epilepsy with febrile seizures plus, type 7

13GLB1
Def
13HEXA
Def

HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES; HGCLAS

INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES; MRD6

NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD

13PURA
Def
13RELN
Def

RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL; RMFSL

13SLC16A2
Def
13TCF4
Def
13TREX1
Def
13WDR45
Def
13GRIA3
Def

glutamate ionotropic receptor AMPA type subunit 3

13KCNQ3
Def

potassium voltage-gated channel subfamily Q member 3

12GRIK2
Def

glutamate ionotropic receptor kainate type subunit 2

12TRIM8
Def

tripartite motif containing 8

12DIAPH1
Def
12NPC1
Def
12PIGN
Def
12SMARCE1
Def
12TBC1D24
Def
12ALDH5A1
Def

aldehyde dehydrogenase 5 family member A1

12GRIN2A
Def

glutamate ionotropic receptor NMDA type subunit 2A

12SCN5A
DefSF

sodium voltage-gated channel alpha subunit 5

12SCN11A
Def

sodium voltage-gated channel alpha subunit 11

12CA2
Def

carbonic anhydrase 2

12GRIA2
Def

glutamate ionotropic receptor AMPA type subunit 2

11CHD8
Def
11DYRK1A
Def
11MECP2
Def
11NFIA
Def
11NSD1
Def
11ATRIP
Lim
11DDC
Def
11PEX5
Def
11TTR
DefSF
11GABRD
Mod

gamma-aminobutyric acid type A receptor subunit delta

11GABRB1
Lim

gamma-aminobutyric acid type A receptor subunit beta1

11GRIA1
Mod

glutamate ionotropic receptor AMPA type subunit 1

10POLG
Lim
10NARS1
Mod

gamma-aminobutyric acid type A receptor subunit alpha2

9AFG2A
Def
9ARSA
Def
9CDK13
Def
9EPG5
Def
9HEXB
Def
9HNRNPU
Def
9KPTN
Def
9MTHFR
Def
9MTR
Def
9PCCA
Def
9PCCB
Def
9PEX26
Def
9PEX6
Def

gamma-aminobutyric acid type A receptor subunit alpha5

sodium voltage-gated channel alpha subunit 7

ARF GTPase 3

synaptic vesicle glycoprotein 2A

9SCN10A
Dis

sodium voltage-gated channel alpha subunit 10

9ADNP
Def
9BCL11A
Def
9DLG4
Def
9FGFR1
Def
9FMR1
Def
9KDM6A
Def
9MEF2C
Def
9SLC6A8
Def
9SLC9A6
Def
9SMS
Def
9WDR26
Def

carbonic anhydrase 4

carbonic anhydrase 1

carbonic anhydrase 12

gamma-aminobutyric acid type A receptor subunit alpha3

gamma-aminobutyric acid type A receptor subunit gamma1

gamma-aminobutyric acid type A receptor subunit gamma3

gamma-aminobutyric acid type A receptor subunit alpha6

gamma-aminobutyric acid type A receptor subunit epsilon

gamma-aminobutyric acid type A receptor subunit alpha4

gamma-aminobutyric acid type A receptor subunit pi

gamma-aminobutyric acid type A receptor subunit theta

potassium calcium-activated channel subfamily N member 2

Possible

74 genes — click to expand
7VPS13D
Lim
7ACADM
Def
7ADSL
Def
7ALDOB
Def
7AP4M1
Def
7ARG1
Def
7ASL
Def
7ATP1A3
Def
7CSNK2B
Def
7DLD
Def
7EHMT1
Def
7FA2H
Def
7FARS2
Def
7GAN
Def
7GRIN1
Def
7KCNMA1
Def
7MAGEL2
Def
7MLC1
Def
7MOCS1
Def
7NGLY1
Def
7NT5C2
Def
7PEX12
Def
7PEX13
Def
7PEX19
Def
7PHGDH
Def
7PHOX2B
Def
7PMM2
Def
7SPTBN4
Def
7TSC1
DefSF
7TUBB4A
Def
7UBE3A
Def
6GPHN
Mod
6LIAS
Mod
6MED23
Mod

EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 17; EIG17

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2; GEFSP2

HYPOMAGNESEMIA, SEIZURES, AND IMPAIRED INTELLECTUAL DEVELOPMENT 1; HOMGSMR1

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2; MCAHS2

NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND IMPAIRED EXPRESSIVE LANGUAGE AND WITH OR WITHOUT SEIZURES; NEDHELS

OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES; OPA10

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