Genes associated with “SCA46”

10 genes foundOpen Targets: phospholipase D3 measurement
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

Consider

3 genes
13PLD3

phospholipase D family member 3

13SCA46

SPINOCEREBELLAR ATAXIA 46; SCA46

9PRX
Def

Possible

3 genes — click to expand
5SLC36A1

solute carrier family 36 member 1

5CTSD
Def

cathepsin D

4MFSD12

major facilitator superfamily domain containing 12

Related phenotype searches

Intellectual disabilityGlobal developmental delaySpeech/language delayNeurodegenerationDevelopmental regressionSeizuresEpileptic encephalopathyStatus epilepticus

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