Genes associated with “SCAN2”

46 genes foundOpen Targets: spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2232 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
SETX →

senataxin

33
score
ClinGen: DefinitiveGTR ↑

Amyotrophic lateral sclerosis 4, juvenile

Frequency
-
P/LP Variants
233
OT Score
0.82

Consider

4 genes
13SCAN2

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2; SCAN2

12SCN8A
Def

sodium voltage-gated channel alpha subunit 8

10PMP22
Def

peripheral myelin protein 22

10CACNA1A

calcium voltage-gated channel subunit alpha1 A

Possible

20 genes — click to expand
8PSAP
Def

prosaposin

8RELN
Def

reelin

8MORC2
Def

MORC family CW-type zinc finger 2

8SPTBN4
Def

spectrin beta, non-erythrocytic 4

6DMD
Def

dystrophin

5GRID2

glutamate ionotropic receptor delta type subunit 2

5IREB2

iron responsive element binding protein 2

5DOCK3

dedicator of cytokinesis 3

5MDGA2

MAM domain containing glycosylphosphatidylinositol anchor 2

4ASPA
Def

aspartoacylase

4SPTBN2
Def

spectrin beta, non-erythrocytic 2

4MATR3
Def

matrin 3

4TPP1
Def

tripeptidyl peptidase 1

3MYH10
Def

myosin heavy chain 10

3UCHL1
Def

ubiquitin C-terminal hydrolase L1

3ATP8A2
Def

ATPase phospholipid transporting 8A2

3HTRA2
Def

HtrA serine peptidase 2

3AFG3L2
Def

AFG3 like matrix AAA peptidase subunit 2

3TARDBP
Def

TAR DNA binding protein

3TUBB4A
Def

tubulin beta 4A class IVa

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.