Genes associated with “EA4”
15 genes foundOpen Targets: episodic ataxia type 4
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 detailsConsider
2 genesScore
Gene
Evidence
Freq
P/LP
OT
Description
13EA4
EPISODIC ATAXIA, TYPE 4; EA4
Possible
9 genes — click to expand
Score
Gene
Evidence
Freq
P/LP
OT
Description
ATPase plasma membrane Ca2+ transporting 2
8
ATP2B2Def
HPOnone
ClinVarnone
Phen2Genenone
Open Targets4%
PanelAppnone
-
-
0.04
ATPase plasma membrane Ca2+ transporting 2
calcium voltage-gated channel auxiliary subunit gamma 2
5
CACNG2Lim
HPOnone
ClinVarnone
Phen2Genenone
Open Targets3%
PanelAppnone
-
-
0.03
calcium voltage-gated channel auxiliary subunit gamma 2
translocase of inner mitochondrial membrane 8A
5
TIMM8ADef
HPOnone
ClinVarnone
Phen2Genenone
Open Targets3%
PanelAppnone
-
-
0.03
translocase of inner mitochondrial membrane 8A
glutamate ionotropic receptor delta type subunit 2
5
HPOnone
ClinVarnone
Phen2Genenone
Open Targets5%
PanelAppnone
-
-
0.05
glutamate ionotropic receptor delta type subunit 2
cadherin related 23
myosin VIIA
myosin XVA
potassium voltage-gated channel subfamily Q member 1
3
HPOnone
ClinVarnone
Phen2Genenone
Open Targets3%
PanelAppnone
-
-
0.03
potassium voltage-gated channel subfamily Q member 1
Related phenotype searches
Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.