Genes associated with “DYT7”

Diagnostic yield calculator →
47 genes foundOpen Targets: torsion dystonia 7
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

Consider

8 genes
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

10PMP22
Def

peripheral myelin protein 22

10DMD
Def

dystrophin

10PLP1
Def

proteolipid protein 1

8DST
Def

dystonin

8SPTBN4
Def

spectrin beta, non-erythrocytic 4

Possible

21 genes — click to expand
8ATP2B2
Def

ATPase plasma membrane Ca2+ transporting 2

8RELN
Def

reelin

6MECP2
Def

methyl-CpG binding protein 2

6ARX
Def

aristaless related homeobox

5DYT7

Dystonia-7, torsion

5KCNN2

potassium calcium-activated channel subfamily N member 2

5GRID2

glutamate ionotropic receptor delta type subunit 2

4PRRT2
Def

proline rich transmembrane protein 2

4GALC
Def

galactosylceramidase

4NEFL
Def

neurofilament light chain

4TNNT1
Def

troponin T1, slow skeletal type

4GABRA1
Def

gamma-aminobutyric acid type A receptor subunit alpha1

4KCNA1
Def

potassium voltage-gated channel subfamily A member 1

4MPZ
Def

myelin protein zero

4CSTB
Def

cystatin B

4SELENON
Def

selenoprotein N

4VAPB
Def

VAMP associated protein B and C

4CACNA1G
Def

calcium voltage-gated channel subunit alpha1 G

4GABRG2
Def

gamma-aminobutyric acid type A receptor subunit gamma2

4GNAO1
Def

G protein subunit alpha o1

4HCN2
Def

hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2

Related phenotype searches

Intellectual disabilityGlobal developmental delaySpeech/language delayNeurodegenerationDevelopmental regressionSeizuresEpileptic encephalopathyStatus epilepticus

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