Genes associated with “episodic ataxia”

113 genes foundHPO: Episodic ataxiaOpen Targets: hereditary episodic ataxia1197 ClinVar P/LP variants5 PanelApp panels
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

14 genes
1
CACNA1A →

calcium voltage-gated channel subunit alpha1 A

61
score
Panel: Green (4) ↑P2G #1GTR ↑

episodic ataxia type 2

Frequency
-
P/LP Variants
357
OT Score
0.83
2
KCNA1 →

potassium voltage-gated channel subfamily A member 1

60
score
ClinGen: DefinitivePanel: Green (4) ↑P2G #2GTR ↑

episodic ataxia type 1

Frequency
-
P/LP Variants
39
OT Score
0.86
3
SLC1A3 →

solute carrier family 1 member 3

60
score
ClinGen: DefinitivePanel: Green (4) ↑P2G #4GTR ↑

episodic ataxia type 6

Frequency
100%
n=1
P/LP Variants
2
OT Score
0.77
4
SCN2A →

sodium voltage-gated channel alpha subunit 2

49
score
ClinGen: DefinitivePanel: Green (2) ↑P2G #15GTR ↑

episodic ataxia, type 9

Frequency
100%
n=1
P/LP Variants
18
OT Score
0.76
5
CACNB4 →

calcium voltage-gated channel auxiliary subunit beta 4

41
score
ClinGen: RefutedPanel: Red (4) ↑P2G #3GTR ↑

episodic ataxia type 5

Frequency
-
P/LP Variants
6
OT Score
0.69
6
38
score
ClinGen: DefinitivePanel: Green (4) ↑GTR ↑
Frequency
-
P/LP Variants
1
OT Score
-
7
33
score
ClinGen: DefinitivePanel: Green (4) ↑P2G #7GTR ↑

dystonia 9

Frequency
-
P/LP Variants
23
OT Score
-
8
28
score
ClinGen: DefinitivePanel: Green (4) ↑P2G #13GTR ↑

cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome

Frequency
100%
n=10
P/LP Variants
-
OT Score
-
9
SPTBN2 →

spectrin beta, non-erythrocytic 2

25
score
ClinGen: DefinitivePanel: Green (4) ↑GTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.06
25RELN
DefP:G×4

reelin

24AGTPBP1
DefP:G×2

ATP/GTP binding carboxypeptidase 1

23NACC1
Def
22SCN1A
DefP:G×3

sodium voltage-gated channel alpha subunit 1

21SCN8A
DefP:G×4

sodium voltage-gated channel alpha subunit 8

Consider

52 genes
20ATP1A2
DefP:G#11

migraine, familial hemiplegic, 2

19FGF14
P:G×4
18UBR4
P:R×4

ubiquitin protein ligase E3 component n-recognin 4

18NFIX
Def
16PDHA1
Def#5

pyruvate dehydrogenase E1-alpha deficiency

14GRID2
P:G×4

glutamate ionotropic receptor delta type subunit 2

14SLC9A1
ModP:G×3

solute carrier family 9 member A1

13ATCAY
P:G×4

ATCAY kinesin light chain interacting caytaxin

13GRM1
P:G×4

glutamate metabotropic receptor 1

13ROBO3
DefP:G×3

roundabout guidance receptor 3

13EA1

EPISODIC ATAXIA, TYPE 1; EA1

13EA2

EPISODIC ATAXIA, TYPE 2; EA2

13EA3

Episodic ataxia, type 3

13EA4

EPISODIC ATAXIA, TYPE 4; EA4

13EA5

EPISODIC ATAXIA, TYPE 5; EA5

13EA6

EPISODIC ATAXIA, TYPE 6; EA6

13EA7

Episodic ataxia, type 7

13EA8

Episodic ataxia, type 8

13EA9

EPISODIC ATAXIA, TYPE 9; EA9

13PMPCB
P:G×3
13SCA27A

SPINOCEREBELLAR ATAXIA 27A; SCA27A

13TANGO2
P:G×2

transport and golgi organization 2 homolog

11GCDH
Def
11MAN2B1
Def
11RNASEH2A
Def
11CACNA2D2
ModP:G

calcium voltage-gated channel auxiliary subunit alpha2delta 2

11KCNN2
P:G×2

potassium calcium-activated channel subfamily N member 2

10EEFSEC
P:G×2

neurodevelopmental disorder with progressive spasticity and brain abnormalities

9OTC
DefSF#6

ornithine carbamoyltransferase deficiency

9DAB1
P:R×4

DAB adaptor protein 1

9GET3
Lim
8GALC
DefP:A

galactosylceramidase

8BEST2
8DAND5
Dis
8DNASE2
8FARSA
8FBXW9
8GADD45GIP1
8HOOK2
8IER2
8KLF1
8LYL1
8MAST1
8PRDX2
8RAD23A
8RTBDN
8STX10
8SYCE2
8TNPO2
8TRMT1
8WDR83
8WDR83OS

Possible

36 genes — click to expand
7GLRA1
P:G

glycine receptor alpha 1

7AIFM1
Def
7CC2D1A
Def
7TRIT1
Def
7ZNF423
ModP:A

zinc finger protein 423

7SLC6A19
Def#8

Hartnup disease

6ZNF490
6ZNF791
6PMP22
Def

peripheral myelin protein 22

5KCNMA1
Def

potassium calcium-activated channel subfamily M alpha 1

5FHM1

MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1

5PDHAD

PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD

4DST
Def

dystonin

4SPTBN4
Def

spectrin beta, non-erythrocytic 4

4ATP2B2
Def

ATPase plasma membrane Ca2+ transporting 2

4MYO5A
Def

myosin VA

4GABRA1
Def

gamma-aminobutyric acid type A receptor subunit alpha1

4GABRG2
Def

gamma-aminobutyric acid type A receptor subunit gamma2

4MPZ
Def

myelin protein zero

4PSAP
Def

prosaposin

4BRME1
4C19ORF53
4DCAF15
4MRI1
4NANOS3
4PODNL1
4RAB33A
4RFX1
4SLC2A1-DT
4YJU2B
4ZNF564
4ZSWIM4
4DNM1
Def

dynamin 1

4CHRNA4
Def

cholinergic receptor nicotinic alpha 4 subunit

4TPK1
Mod

childhood encephalopathy due to thiamine pyrophosphokinase deficiency

3SYT2
Mod

synaptotagmin 2

Related phenotype searches

Epileptic encephalopathyDravet syndromeHSPCMT/HMSNSpinocerebellar ataxiaCerebellar ataxiaMuscular dystrophyLeukodystrophy

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