Genes associated with “DYT26

70 genes foundOpen Targets: myoclonic dystonia 2614 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
KCTD17

potassium channel tetramerization domain containing 17

24
score

Dystonia 26, myoclonic

Frequency
-
P/LP Variants
13
OT Score
0.66

Consider

8 genes

DYSTONIA 26, MYOCLONIC; DYT26

10RAC2
Str
9SOX10
Def

Possible

52 genes — click to expand
7CSF2RB
Def
7IFT27
Def
7KMT2B
Def
7PLA2G6
Def
7TRIOBP
Def
6IL2RB
Mod
6ARX
Def

aristaless related homeobox

4MYO5A
Def

myosin VA

4MPST
No
4DST
Def

dystonin

4ATP1A3
Def

ATPase Na+/K+ transporting subunit alpha 3

4PCDH15
Def

protocadherin related 15

4SCN8A
Def

sodium voltage-gated channel alpha subunit 8

4LAMA2
Def

laminin subunit alpha 2

dynein cytoplasmic 1 heavy chain 1

4PRRT2
Def

proline rich transmembrane protein 2

4GABRA1
Def

gamma-aminobutyric acid type A receptor subunit alpha1

4KCNQ1
DefSF

potassium voltage-gated channel subfamily Q member 1

4GABRG2
Def

gamma-aminobutyric acid type A receptor subunit gamma2

4RELN
Def

reelin

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