Genes associated with “DYT33”

Diagnostic yield calculator →
48 genes foundOpen Targets: dystonia 33
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
EIF2AK2 →

eukaryotic translation initiation factor 2 alpha kinase 2

23
score
GTR ↑

Dystonia 33

Frequency
-
P/LP Variants
4
OT Score
0.62

Consider

8 genes
13DYT33

DYSTONIA 33; DYT33

12SCN8A
Def

sodium voltage-gated channel alpha subunit 8

11ATP1A3
Def

ATPase Na+/K+ transporting subunit alpha 3

10CACNA1A

calcium voltage-gated channel subunit alpha1 A

10DMD
Def

dystrophin

10NR2F1
Def

nuclear receptor subfamily 2 group F member 1

10PMP22
Def

peripheral myelin protein 22

8DST
Def

dystonin

Possible

16 genes — click to expand
8MYO5A
Def

myosin VA

8TARDBP
Def

TAR DNA binding protein

6DSCAM

DS cell adhesion molecule

6ZDHHC9
Def

zDHHC palmitoyltransferase 9

6PITX2
Def

paired like homeodomain 2

4PRRT2
Def

proline rich transmembrane protein 2

4SLC6A5
Def

solute carrier family 6 member 5

4LAMA2
Def

laminin subunit alpha 2

4SLC26A4
Def

solute carrier family 26 member 4

4VAPB
Def

VAMP associated protein B and C

4PEX7
Def

peroxisomal biogenesis factor 7

4KCNQ1
DefSF

potassium voltage-gated channel subfamily Q member 1

4ASPA
Def

aspartoacylase

4PRSS56
Def

serine protease 56

3CHAT
Def

choline O-acetyltransferase

3KCNA1
Def

potassium voltage-gated channel subfamily A member 1

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.