Genes associated with “DYT26”

Diagnostic yield calculator →
91 genes foundOpen Targets: myoclonic dystonia 26
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:
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Strong Candidates

1 gene
1
KCTD17 →

potassium channel tetramerization domain containing 17

24
score
GTR ↑

Dystonia 26, myoclonic

Frequency
-
P/LP Variants
13
OT Score
0.67

Consider

8 genes
13DYT26

DYSTONIA 26, MYOCLONIC; DYT26

9SOX10
Def
8CSNK1E
8DDX17
8ELFN2
8GGA1
8GTPBP1
8KCNJ4

Possible

61 genes — click to expand
7CSF2RB
Def
7IFT27
Def
7KMT2B
Def
7PLA2G6
Def
7TMPRSS6
Def
7TRIOBP
Def
6IL2RB
Mod
6RAC2
Str
6MECP2
Def

methyl-CpG binding protein 2

6PLP1
Def

proteolipid protein 1

6PMP22
Def

peripheral myelin protein 22

6ARX
Def

aristaless related homeobox

4SCN8A
Def

sodium voltage-gated channel alpha subunit 8

4DST
Def

dystonin

4SPTBN4
Def

spectrin beta, non-erythrocytic 4

4ANKRD54
4BAIAP2L2
4C1QTNF6
4C22ORF23
4CARD10
4CBY1
4CDC42EP1
4CIMIP4
4CYTH4
4DMC1
4EIF3L
4FAM227A
4GALR3
4H1-0
4JOSD1
4KDELR3
4LGALS1
4LGALS2
4MICALL1
4MPST
No
4NCF4
4NOL12
4PICK1
4POLR2F
4PVALB
4SH3BP1
4SLC16A8
4SSTR3
4SUN2
4TMEM184B
4TOMM22
4ATP2B2
Def

ATPase plasma membrane Ca2+ transporting 2

4RELN
Def

reelin

4PRRT2
Def

proline rich transmembrane protein 2

4GALC
Def

galactosylceramidase

4GABRA1
Def

gamma-aminobutyric acid type A receptor subunit alpha1

4ATP1A3
Def

ATPase Na+/K+ transporting subunit alpha 3

4KCNA1
Def

potassium voltage-gated channel subfamily A member 1

4NEFL
Def

neurofilament light chain

4MPZ
Def

myelin protein zero

4CSTB
Def

cystatin B

4HCN2
Def

hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2

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

3CACNA1A

calcium voltage-gated channel subunit alpha1 A

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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.