Genes associated with “EA1”

53 genes foundOpen Targets: episodic ataxia type 172 ClinVar P/LP variants
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

1 gene
1
KCNA1 →

potassium voltage-gated channel subfamily A member 1

30
score
ClinGen: DefinitiveGTR ↑

Episodic ataxia/myokymia syndrome

Frequency
-
P/LP Variants
72
OT Score
0.86

Consider

6 genes
13EA1

EPISODIC ATAXIA, TYPE 1; EA1

12SCN8A
Def

sodium voltage-gated channel alpha subunit 8

11KCNMA1
Def

potassium calcium-activated channel subfamily M alpha 1

10PMP22
Def

peripheral myelin protein 22

8SPTBN4
Def

spectrin beta, non-erythrocytic 4

8ATP2B2
Def

ATPase plasma membrane Ca2+ transporting 2

Possible

18 genes — click to expand
8RELN
Def

reelin

6MECP2
Def

methyl-CpG binding protein 2

6NRXN1
Def

neurexin 1

6ATP7A
Def

ATPase copper transporting alpha

6HPRT1
Def

hypoxanthine phosphoribosyltransferase 1

6PLP1
Def

proteolipid protein 1

5KCNN2

potassium calcium-activated channel subfamily N member 2

5GRID2

glutamate ionotropic receptor delta type subunit 2

5RREB1

ras responsive element binding protein 1

4GALC
Def

galactosylceramidase

4MPZ
Def

myelin protein zero

4TPP1
Def

tripeptidyl peptidase 1

4HEXB
Def

hexosaminidase subunit beta

4KCNQ1
DefSF

potassium voltage-gated channel subfamily Q member 1

4PLCB4
Def

phospholipase C beta 4

4ATP7B
DefSF

ATPase copper transporting beta

4EPG5
Def

ectopic P-granules 5 autophagy tethering factor

4ATP8A2
Def

ATPase phospholipid transporting 8A2

Related phenotype searches

Epileptic encephalopathyDravet syndromeHSPCMT/HMSNSpinocerebellar ataxiaCerebellar ataxiaEpisodic ataxiaMuscular dystrophy

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