Genes associated with “SPAX1”

Diagnostic yield calculator →
53 genes foundOpen Targets: spastic ataxia 1
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
VAMP1 →

vesicle associated membrane protein 1

23
score
GTR ↑

Myasthenic syndrome, congenital, 25

Frequency
-
P/LP Variants
4
OT Score
0.66

Consider

10 genes
13SPAX1

SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1

12SCN8A
Def

sodium voltage-gated channel alpha subunit 8

10CACNA1A

calcium voltage-gated channel subunit alpha1 A

10PMP22
Def

peripheral myelin protein 22

9TAPBPL
9TUBA4A
Mod

tubulin alpha 4a

8MYO5A
Def

myosin VA

8SPTBN4
Def

spectrin beta, non-erythrocytic 4

8DST
Def

dystonin

8PSAP
Def

prosaposin

Possible

20 genes — click to expand
6DMD
Def

dystrophin

6MECP2
Def

methyl-CpG binding protein 2

5GRID2

glutamate ionotropic receptor delta type subunit 2

5ATXN7

ataxin 7

4LAMA2
Def

laminin subunit alpha 2

4CSTB
Def

cystatin B

4SLC6A5
Def

solute carrier family 6 member 5

4AGTPBP1
Def

ATP/GTP binding carboxypeptidase 1

4TARDBP
Def

TAR DNA binding protein

4ASPA
Def

aspartoacylase

4PRRT2
Def

proline rich transmembrane protein 2

4RELN
Def

reelin

4KCNQ1
DefSF

potassium voltage-gated channel subfamily Q member 1

4ATP2B2
Def

ATPase plasma membrane Ca2+ transporting 2

4VAPB
Def

VAMP associated protein B and C

4GAA
DefSF

alpha glucosidase

4KCNMA1
Def

potassium calcium-activated channel subfamily M alpha 1

4GALC
Def

galactosylceramidase

4SPTBN2
Def

spectrin beta, non-erythrocytic 2

4AGRN
Def

agrin

Related phenotype searches

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