Genes associated with “seizures”

332 genes foundHPO: Hypocalcemic seizuresOpen Targets: Seizure
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
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Strong Candidates

25 genes
1
SCN1A →

sodium voltage-gated channel alpha subunit 1

53
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
5
OT Score
0.80
2
KCNQ2 →

potassium voltage-gated channel subfamily Q member 2

48
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
5
OT Score
0.69
3
SCN3A →

sodium voltage-gated channel alpha subunit 3

35
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
1
OT Score
0.72
4
GABRB3 →

gamma-aminobutyric acid type A receptor subunit beta3

34
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
1
OT Score
0.66
5
CACNA1E →

calcium voltage-gated channel subunit alpha1 E

33
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.72
6
GABRG2 →

gamma-aminobutyric acid type A receptor subunit gamma2

31
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
1
OT Score
0.76
7
SCN2A →

sodium voltage-gated channel alpha subunit 2

31
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
2
OT Score
0.79
8
CACNA1A →

calcium voltage-gated channel subunit alpha1 A

31
score
GTR ↑
Frequency
-
P/LP Variants
45
OT Score
0.73
9
29
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
2
OT Score
-
28GRIA3
Def

glutamate ionotropic receptor AMPA type subunit 3

27NPRL3
Def
25GABRA1
Def

gamma-aminobutyric acid type A receptor subunit alpha1

24GABRB2
Def

gamma-aminobutyric acid type A receptor subunit beta2

24ADGRV1
Def

adhesion G protein-coupled receptor V1

24SCN4A
Def

sodium voltage-gated channel alpha subunit 4

24SLC2A1
Def

solute carrier family 2 member 1

23DEPDC5
Def
22SCN8A
Def

sodium voltage-gated channel alpha subunit 8

22CACNA1B
Mod

calcium voltage-gated channel subunit alpha1 B

21NUS1
Def
20CNNM2
Def
20KCNT1
Def
20PNKP
Def
20PRRT2
Def
20TANC2
Def

Consider

118 genes
18GABRA5

gamma-aminobutyric acid type A receptor subunit alpha5

17CUL3
Def
16TBCE
Mod#2

Hypocalcemic seizures

15AHDC1
Def
15CHD7
Def
15KMT2D
Def
15MECP2
Def
15MED13L
Def
15NSD1
Def
14CACNA2D1
Dis

calcium voltage-gated channel auxiliary subunit alpha2delta 1

14GRIN2B
Def
13CSNK2A1
Def
13CACNA1C
Def

calcium voltage-gated channel subunit alpha1 C

13ACADM
Def
13AGA
Def
13ALPL
Def
13ARSA
Def
13ASL
Def
13ASNS
Def
13ASPM
Def
13ASS1
Def
13BFIS1

Seizures, benign familial infantile, 1

13BFIS3

SEIZURES, BENIGN FAMILIAL INFANTILE, 3; BFIS3

13BFNS1

SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1

13BFNS2

SEIZURES, BENIGN FAMILIAL NEONATAL, 2; BFNS2

13BFNS3

SEIZURES, BENIGN FAMILIAL NEONATAL, 3; BFNS3

13CASK
Def
13CBS
Def
13CPT2
Def
13DDX3X
Def
13DLD
Def
13DOORS

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

13EHMT1
Def
13FEB1

Febrile seizures, familial, 1

13FEB5

Febrile seizures, familial, 5

13FEB6

Febrile seizures, familial, 6

13FEB8

FEBRILE SEIZURES, FAMILIAL, 8; FEB8

13FEB9

Febrile seizures, familial, 9

13G6PC1
Def
13GEFSP4

Generalized epilepsy with febrile seizures plus, type 4

13GLB1
Def
13HEXA
Def
13MMAA
Def
13MMAB
Def
13NFIX
Def
13NPC1
Def
13PAH
Def
13PCCA
Def
13PMM2
Def
13POGZ
Def
13TSC2
DefSF
13GRIK2
Def

glutamate ionotropic receptor kainate type subunit 2

13KCNQ3
Def

potassium voltage-gated channel subfamily Q member 3

12TRIM8
Def

tripartite motif containing 8

12ALDOB
Def
12CACNA1G
Def

calcium voltage-gated channel subunit alpha1 G

12GRIN2A
Def

glutamate ionotropic receptor NMDA type subunit 2A

12SCN5A
DefSF

sodium voltage-gated channel alpha subunit 5

12CACNA1D
Def

calcium voltage-gated channel subunit alpha1 D

12SCN11A
Def

sodium voltage-gated channel alpha subunit 11

12CACNA1F
Def

calcium voltage-gated channel subunit alpha1 F

12CACNA2D4
Def

calcium voltage-gated channel auxiliary subunit alpha2delta 4

11DLG4
Def
11IKBKG
Def
11KDM6A
Def
11PHF21A
Def
11RPS6KA3
Def
11SATB2
Def
11SLC6A8
Def
11SON
Def
11CACNA2D2
Mod

calcium voltage-gated channel auxiliary subunit alpha2delta 2

11KPTN
Def
11MAGEL2
Def
11CSNK2B
Def
10CACNG2
Lim

calcium voltage-gated channel auxiliary subunit gamma 2

10CZ1P-ASNS
10NARS1
Mod
10VPS13A
10GABRA2

gamma-aminobutyric acid type A receptor subunit alpha2

9CDK13
Def
9HEXB
Def
9IVD
Def
9MVK
Def
9NGLY1
Def
9RTTN
Def
9SMARCA2
Def
9TBCK
Def
9UBE3A
Def
9SCN7A

sodium voltage-gated channel alpha subunit 7

9ARF3

ARF GTPase 3

9SV2A

synaptic vesicle glycoprotein 2A

9CACNA1H

calcium voltage-gated channel subunit alpha1 H

9SCN10A
Dis

sodium voltage-gated channel alpha subunit 10

9CACNA1I

calcium voltage-gated channel subunit alpha1 I

9CACNB3

calcium voltage-gated channel auxiliary subunit beta 3

9CACNG4

calcium voltage-gated channel auxiliary subunit gamma 4

9CACNA2D3

calcium voltage-gated channel auxiliary subunit alpha2delta 3

9CACNB2
Dis

calcium voltage-gated channel auxiliary subunit beta 2

9CACNG1

calcium voltage-gated channel auxiliary subunit gamma 1

9CACNG3

calcium voltage-gated channel auxiliary subunit gamma 3

9CACNG5

calcium voltage-gated channel auxiliary subunit gamma 5

9CACNG6

calcium voltage-gated channel auxiliary subunit gamma 6

9CACNG7

calcium voltage-gated channel auxiliary subunit gamma 7

9CACNG8

calcium voltage-gated channel auxiliary subunit gamma 8

9ADNP
Def
9ASXL1
Def
9CHD8
Def
9CTCF
Def
9DDX41
Def
9FOXG1
Def
9KMT2E
Def
9MEF2C
Def
9NFIA
Def
9PKD1
Def
9SLC9A6
Def
9SMS
Def
9TCF4
Def
8GTF3C3

Possible

188 genes — click to expand
7ADK
Def
7AP4M1
Def
7ATP7B
DefSF
7B4GALT7
Def
7CCM2
Def
7CLCN7
Def
7CORO1A
Def
7DHTKD1
Def
7ECHS1
Def
7EEF1A2
Def
7F12
Def
7FGFR3
Def
7FUCA1
Def
7GFAP
Def
7GNB1
Def
7IQSEC2
Def
7KCNJ10
Def
7LMBRD1
Def
7MBD5
Def
7MBTPS1
Def
7MN1
Def
7MTHFR
Def
7MTOR
Def
7MTRR
Def
7NTHL1
Def
7OCA2
Def
7PCCB
Def
7PEX1
Def
7PPP2R1A
Def
7PURA
Def
7RTEL1
Def
7SETD1B
Def
7SLC34A1
Def
7TREX1
Def
7TRPM3
Def
7TSC1
DefSF
7TUBB4A
Def
7VLDLR
Def
7CYP27B1
Def#3

Hypocalcemic seizures

6ABCA2
6ADPRS
6ARFGEF1
6SNHG14
6GCM2
#9

Hypocalcemic seizures

6LIAS
Mod
6PPOX
Str
6PPP1R12A
Str
6SLC6A1
6YWHAZ
Mod
6SCN9A
Ref

sodium voltage-gated channel alpha subunit 9

5CLDN16
Def

Hypocalcemic seizures

5MAPK3
5ATRIP
Lim
5CHD1
Lim
5EIG17

EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 17; EIG17

5GEFSP7

Generalized epilepsy with febrile seizures plus, type 7

5HOMGSMR1

HYPOMAGNESEMIA, SEIZURES, AND IMPAIRED INTELLECTUAL DEVELOPMENT 1; HOMGSMR1

5MCAHS2

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2; MCAHS2

5MRD6

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

5NEDHELS

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

5OPA10

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

5ROBO1
Lim
5TNFRSF11A
#7

Hypocalcemic seizures

4CACNB4
Ref

calcium voltage-gated channel auxiliary subunit beta 4

4ALDOA
4ARL10
4ARRDC1
4ASPHD1
4ATP10A
4ATP10A-DT
4ATRIP-TREX1
4BOLA2
4BOLA2-SMG1P6
4BOLA2B
4C16ORF54
4CDHR2
4CDIPT
4CDIPTOSP
4CYFIP1
4DBN1
4DEAF1
4DOC2A
4DOK3
4DPH7
4EIF4A2
4EIF4E1B
4ENTPD8
4EXD3
4FAF2
4FAM13A
4FAM153A
4FAM153B
4FAM193B
4FAM193B-DT
4FGFR4
4FIMP1
4FNDC11
4GABRG3
4GDPD3
4GMEB2
4GOLGA6L1
4GOLGA6L2
4GOLGA6L26
4GOLGA8S
4GPRIN1
4GRK6
4HACE1
4HECTD4
4HELZ2
4HERC2
4HIGD2A
4HIRIP3
4HK3
4INO80E
4KCTD13
4KCTD13-DT
4KIAA1191
4KIF22
4LMAN2
4MFSD2A
4MKRN3
4MRPL41
4MVP-DT
4MXD3
4NELFB
4NIPA1
4NIPA2
4NOP16
4NOXA1
4NPAP1
4NPIPB12
4NPIPB13
4NRARP
4ODC1
4PAGR1
4PDLIM7
4PFN3
4PI4KA
4PNPLA7
4PPDPF
4PPP4C
4PRELID1
4PROP1
4PRR7
4PTK6
4PWAR1
4PWAR4
4PWAR5
4PWAR6
4PWARSN
4PWRN1
4PWRN2
4PWRN3
4PWRN4
4RAB24
4RGS14
4RNF44
4SEZ6L2
4SIMC1
4SLX1A
4SLX1A-SULT1A3
4SLX1B
4SLX1B-SULT1A4
4SNRPN
4SNURF
4STMN3
4SULT1A3
4SULT1A4
4TAOK2
4TBX6
4TLCD3B
4TMED9
4TMEM219
4TMPPE
4TOR4A
4TRE-TTC2-2
4TSEN54
4TSPAN17
4TUBGCP5
4UIMC1
4UNC5A
4WASF1
4YPEL3
4YPEL3-DT
4ZG16
4ZMYM2
4ZMYND19
4ZNF346

Related phenotype searches

Intellectual disabilityGlobal developmental delaySpeech/language delayNeurodegenerationDevelopmental regressionEpileptic encephalopathyStatus epilepticusInfantile spasms

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