Genes associated with “SCA44”

49 genes foundOpen Targets: spinocerebellar ataxia 445 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
hover for details

Strong Candidates

1 gene
1
GRM1 →

glutamate metabotropic receptor 1

23
score
GTR ↑

Spinocerebellar ataxia 44

Frequency
-
P/LP Variants
5
OT Score
0.63

Consider

3 genes
13SCA44

SPINOCEREBELLAR ATAXIA 44; SCA44

12SCN8A
Def

sodium voltage-gated channel alpha subunit 8

10CACNA1A

calcium voltage-gated channel subunit alpha1 A

Possible

26 genes — click to expand
8RELN
Def

reelin

8ATP2B2
Def

ATPase plasma membrane Ca2+ transporting 2

8SPTBN4
Def

spectrin beta, non-erythrocytic 4

8ZIC1
Def

Zic family zinc finger 1

8LMX1A
Def

LIM homeobox transcription factor 1 alpha

8PSAP
Def

prosaposin

8DST
Def

dystonin

7ZNF423
Mod

zinc finger protein 423

6PMP22
Def

peripheral myelin protein 22

5GRID2

glutamate ionotropic receptor delta type subunit 2

5PRKCG

protein kinase C gamma

5RREB1

ras responsive element binding protein 1

5DAB1

DAB adaptor protein 1

5CACNA1G

calcium voltage-gated channel subunit alpha1 G

4AGTPBP1
Def

ATP/GTP binding carboxypeptidase 1

4SIL1
Def

SIL1 nucleotide exchange factor

4TUBB4A
Def

tubulin beta 4A class IVa

4TPP1
Def

tripeptidyl peptidase 1

4CDH23
Def

cadherin related 23

4SPTBN2
Def

spectrin beta, non-erythrocytic 2

4MYO5A
Def

myosin VA

4PCDH15
Def

protocadherin related 15

4PLCB4
Def

phospholipase C beta 4

4GALC
Def

galactosylceramidase

4ATP8A2
Def

ATPase phospholipid transporting 8A2

4CSTB
Def

cystatin B

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.