Genes associated with “seizures”

Diagnostic yield calculator →
175 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

21 genes
1
SCN1A →

sodium voltage-gated channel alpha subunit 1

49
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
2
OT Score
0.78
2
KCNQ2 →

potassium voltage-gated channel subfamily Q member 2

44
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
2
OT Score
0.66
3
SCN3A →

sodium voltage-gated channel alpha subunit 3

41
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
76
OT Score
0.72
4
CACNA1E →

calcium voltage-gated channel subunit alpha1 E

33
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.72
5
CACNA1C →

calcium voltage-gated channel subunit alpha1 C

31
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
5
OT Score
0.67
6
CACNA1A →

calcium voltage-gated channel subunit alpha1 A

31
score
GTR ↑
Frequency
-
P/LP Variants
46
OT Score
0.73
7
GRIA3 →

glutamate ionotropic receptor AMPA type subunit 3

28
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
17
OT Score
0.67
8
27
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
1
OT Score
-
9
GABRG2 →

gamma-aminobutyric acid type A receptor subunit gamma2

26
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.75
25CACNA2D1
Dis

calcium voltage-gated channel auxiliary subunit alpha2delta 1

25GABRB3
Def

gamma-aminobutyric acid type A receptor subunit beta3

24GABRA1
Def

gamma-aminobutyric acid type A receptor subunit alpha1

24GABRB2
Def

gamma-aminobutyric acid type A receptor subunit beta2

24BRAT1
Def
24KCTD7
Def
24ADGRV1
Def

adhesion G protein-coupled receptor V1

24SCN2A
Def

sodium voltage-gated channel alpha subunit 2

22SCN8A
Def

sodium voltage-gated channel alpha subunit 8

21DEPDC5
Def
21CACNA1D
Def

calcium voltage-gated channel subunit alpha1 D

20PIGQ
Def

Consider

115 genes
17CUL3
Def
17CACNA1B
Mod

calcium voltage-gated channel subunit alpha1 B

16TBCE
Mod#2

Hypocalcemic seizures

15ANKRD11
Def
15CHD7
Def
15SLC6A8
Def
15SLC2A1
Def

solute carrier family 2 member 1

14CYP27A1
Def
14TCIRG1
Def
14SCN4A
Def

sodium voltage-gated channel alpha subunit 4

13ACADM
Def
13ALPL
Def
13ARSA
Def
13ATP7A
Def
13ATP7B
DefSF
13BFIS1

Seizures, benign familial infantile, 1

13BFNS1

SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1

13BFNS2

SEIZURES, BENIGN FAMILIAL NEONATAL, 2; BFNS2

13CASVDD

CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY; CASVDD

13CBS
Def
13DLD
Def
13FEB1

Febrile seizures, familial, 1

13FEB4

FEBRILE SEIZURES, FAMILIAL, 4; FEB4

13GALC
Def
13GEFSP1

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1; GEFSP1

13GEFSP10

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10; GEFSP10

13GEFSP2

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2; GEFSP2

13HEXA
Def
13HEXB
Def
13MIGSB

MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS; MIGSB

13MMUT
Def
13NEDNEH

NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS; NEDNEH

13NEDSSWI

NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT; NEDSSWI

13NPC1
Def
13PAH
Def
13PCCA
Def
13PCCB
Def
13PMM2
Def
13SLC17A5
Def
13SLC19A3
Def
13TRMU
Def
13GRIK2
Def

glutamate ionotropic receptor kainate type subunit 2

12GRIN2A
Def

glutamate ionotropic receptor NMDA type subunit 2A

12ARG1
Def
12ASNS
Def
12MLC1
Def
12ALDH5A1
Def

aldehyde dehydrogenase 5 family member A1

12SCN5A
DefSF

sodium voltage-gated channel alpha subunit 5

12CACNA1G
Def

calcium voltage-gated channel subunit alpha1 G

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

11ARID1B
Def
11ASXL1
Def
11ASXL3
Def
11CASK
Def
11CHD8
Def
11GLI3
Def
11TCF4
Def
11MED23
Mod
11CACNA2D2
Mod

calcium voltage-gated channel auxiliary subunit alpha2delta 2

11CACNA1S
ModSF

calcium voltage-gated channel subunit alpha1 S

11AARS2
Def
11ASS1
Def
11BTD
DefSF
11CPT2
Def
11DNMT3A
Def
11MMAA
Def
11NPC2
Def
11POLG
Lim
11TRIO
Def
10CACNG2
Lim

calcium voltage-gated channel auxiliary subunit gamma 2

10GNAO1
Def
10POLGARF
10TSC2
SF
10VPS13A
10GABRA2

gamma-aminobutyric acid type A receptor subunit alpha2

9GABRA5

gamma-aminobutyric acid type A receptor subunit alpha5

9ALDOB
Def
9ASL
Def
9CZ1P-ASNS
9SLC35A3
9ARF3

ARF GTPase 3

9SCN7A

sodium voltage-gated channel alpha subunit 7

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

9CACNB1

calcium voltage-gated channel auxiliary subunit beta 1

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

9CACNG8

calcium voltage-gated channel auxiliary subunit gamma 8

9AP1S2
Def
9DYRK1A
Def
9FGFR1
Def
9FOXG1
Def
9GRIN2B
Def
9IKBKG
Def
9KMT2D
Def
9KMT2E
Def
9MECP2
Def
9MEF2C
Def
9NR4A2
Def
9NSD1
Def
9PHF21A
Def
9RPS6KA3
Def
9SMS
Def
9SON
Def
8TSC1
SF

Possible

37 genes — click to expand
7AMACR
Def
7COL4A1
Def
7ECHS1
Def
7FGFR3
Def
7GFAP
Def
7GLB1
Def
7IRF2BPL
Def
7IVD
Def
7KCNQ3
Def
7MN1
Def
7MTOR
Def
7PIGT
Def
7PPP1R21
Def
7SETD1B
Def
7SLC52A2
Def
7TBC1D24
Def
7THOC6
Def
7UNC80
Def
7CYP27B1
Def#3

Hypocalcemic seizures

6GCM2
#9

Hypocalcemic seizures

6PPP1R12A
Str
5CLDN16
Def

Hypocalcemic seizures

5EIG17

EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 17; EIG17

5GEFSP7

Generalized epilepsy with febrile seizures plus, type 7

5MCAHS2

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2; MCAHS2

5MCAHS4

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4

5MRD6

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

5MRD60

INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60

5TNFRSF11A
#7

Hypocalcemic seizures

5SCN9A
Ref

sodium voltage-gated channel alpha subunit 9

4CACNB4
Ref

calcium voltage-gated channel auxiliary subunit beta 4

4C1QTNF3-AMACR
4CHKB-CPT1B
4KRIT1
4PI4KA
4PIK3CA
Ref
4PPFIBP1

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.