Genes associated with “dystonia”

Diagnostic yield calculator →
240 genes foundHPO: DystoniaOpen Targets: Dystonia3 PanelApp panels
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

56 genes
1
GCH1 →

GTP cyclohydrolase 1

56
score
ClinGen: DefinitivePanel: Green (3) ↑P2G #41GTR ↑

Torticollis

Frequency
75%
n=4
P/LP Variants
4
OT Score
0.64
2
SLC2A1 →

solute carrier family 2 member 1

45
score
ClinGen: DefinitivePanel: Green (3) ↑P2G #11GTR ↑

Dystonia

Frequency
-
P/LP Variants
3
OT Score
0.51
3
ATP7B →

ATPase copper transporting beta

45
score
ClinGen: DefinitiveACMG SFPanel: Green (3) ↑P2G #4GTR ↑

Limb dystonia

Frequency
100%
n=1
P/LP Variants
41
OT Score
0.50
4
ATP1A3 →

ATPase Na+/K+ transporting subunit alpha 3

44
score
ClinGen: DefinitivePanel: Green (3) ↑P2G #29GTR ↑

Dystonia

Frequency
10%
n=10
P/LP Variants
3
OT Score
0.42
5
42
score
ClinGen: DefinitivePanel: Green (3) ↑P2G #42GTR ↑

Dystonia

Frequency
100%
n=1
P/LP Variants
-
OT Score
-
6
WDR45 →

WD repeat domain 45

40
score
ClinGen: DefinitivePanel: Green (3) ↑GTR ↑
Frequency
-
P/LP Variants
2
OT Score
0.61
7
FA2H →

fatty acid 2-hydroxylase

37
score
ClinGen: DefinitivePanel: Green (3) ↑P2G #6GTR ↑
Frequency
-
P/LP Variants
2
OT Score
0.47
8
SPR →

sepiapterin reductase

37
score
ClinGen: DefinitivePanel: Green (3) ↑GTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.55
9
NPC2 →

NPC intracellular cholesterol transporter 2

35
score
ClinGen: DefinitivePanel: Green (3) ↑P2G #28GTR ↑
Frequency
-
P/LP Variants
3
OT Score
0.37
35ADCY5
DefP:G×3

Dystonia

34PTS
DefP:G×3

Dystonia

34ATM
DefP:G×3#12
34DDC
DefP:G×3

dopa decarboxylase

33TUBB4A
DefP:G×3

Dystonia

33SLC6A3
DefP:G×3

Oromandibular dystonia

32HPRT1
DefP:G×3#2

hypoxanthine phosphoribosyltransferase 1

32SERAC1
DefP:G×3

Dystonia

31PINK1
DefP:G×3

PTEN induced kinase 1

31TOR1A
P:G×3

Oromandibular dystonia

30SLC19A3
DefP:G×3

solute carrier family 19 member 3

30PRRT2
DefP:G×3#8
29VPS13A
P:G×3#10
29SUCLA2
DefP:G×3

Dystonia

29KMT2B
DefP:G×3

Retrocollis

28VPS16
P:G×2

VPS16 core subunit of CORVET and HOPS complexes

28FTL
DefP:G×3

Dystonia

27NPC1
DefP:G
27HPCA
DefP:G×3

Torsion dystonia

27DLAT
ModP:G×3

Paroxysmal dystonia

27DCAF17
DefP:G×3

Blepharospasm

27PRKN
DefP:G×3

Focal dystonia

27ATP13A2
DefP:G×3

Torticollis

27GLB1
DefP:G×2
27ARSA
DefP:G×3

arylsulfatase A

26GNB1
DefP:G

Dystonia

26GCDH
DefP:G×3

glutaryl-CoA dehydrogenase

26CYP27A1
DefP:G×3
26PLA2G6
DefP:G×3
25PDHA1
DefP:G×2#3

Dystonia

24GNAO1
DefP:G×3

Dystonia

24PRKRA
P:G×3

Retrocollis

24AFG3L2
DefP:G×3

AFG3 like matrix AAA peptidase subunit 2

24UBTF
DefP:G

Dystonia

23FBXO7
P:G×3

F-box protein 7

23ARX
DefP:G×3#14

Limb dystonia

23PANK2
P:G×3

pantothenate kinase 2

22NR4A2
DefP:R

Dystonia

22QDPR
DefP:G×3

quinoid dihydropteridine reductase

22POLR3A
DefP:G

Dystonia

22SLC20A2
P:G×3

Dystonia

21TBC1D24
DefP:G

Writer's cramp

21AUH
DefP:A×3

AU RNA binding methylglutaconyl-CoA hydratase

21HEXA
DefP:G×2
21SCN8A
DefP:G×2
20BCAP31
DefP:G×3
20PDHX
DefP:G×3

Dystonia

Consider

91 genes
20CHMP2B
DefP:G×3

Dystonia

19SLC6A8
DefP:G

Dystonia

19SLC39A14
P:G×3

Dystonia

19NDUFS1
DefP:G#16

Dystonia

19CHD8
Def

Limb dystonia

19SLC16A2
DefP:G
19THAP1
P:G×3

Torsion dystonia

18SETX
DefP:G

Dystonia

18ACTB
DefP:G×3

Leg dystonia

18COL6A3
DefP:A

Torticollis

18TREX1
DefP:G×3

Dystonia

18POLR3B
Def

Dystonia

18VAMP2
P:G×2

Dystonia

18SYNJ1
DefP:G×3

Dystonia

17SLC18A2
DefP:G
17CASK
DefP:R
17ETHE1
DefP:R×2
17IRF2BPL
DefP:G
17ECHS1
DefP:G
17MED27
DefP:G

mediator complex subunit 27

17ANO3
P:G×3

anoctamin 3

16SPG7
DefP:A
16VPS41
P:G×2

VPS41 subunit of HOPS complex

16NDUFAF5
DefP:G

Dystonia

15GRN
DefP:G
15SCN1A
DefP:G×2

Dystonia

15KCTD17
P:G

Dystonia

15CBS
DefP:R
15CDKL5
Def
15GRIN1
DefP:G

Oculogyric crisis

15SCP2
DefP:R×3

Torticollis

14CTNNB1
Def
14STXBP1
Def
14COASY
P:G×3

Oromandibular dystonia

14GJC2
DefP:G

Dystonia

14MECP2
Def

Dystonia

14CACNA1E
Def

calcium voltage-gated channel subunit alpha1 E

13CLPB
LimP:G
13VPS13D
LimP:G
13YY1
DefP:G×3

Dystonia

13PNKP
DefP:G

Dystonia

13CACNA1G
DefP:G
13DLG4
Def
13DYT1

DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT; DYT1

13DYT11

DYSTONIA 11, MYOCLONIC; DYT11

13DYT12

DYSTONIA 12; DYT12

13DYT2

DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE; DYT2

13DYT23

Dystonia 23

13DYT3

DYSTONIA 3, TORSION, X-LINKED; DYT3

13DYT4

DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT; DYT4

13DYT6

DYSTONIA 6, TORSION; DYT6

13DYT9

DYSTONIA 9; DYT9

13GRIN2A
Def
13RS1
Def
13CAMK4
P:G

calcium/calmodulin dependent protein kinase IV

13GTPBP2
DefP:G×2

Dystonia

13MECR
ModP:G×3

Craniofacial dystonia

13MAT1A
DefP:R×3

Dystonia

13GM2A
DefP:G

Dystonia

13TACO1
DefP:R

Hemidystonia

12PRKCG
P:A

Focal dystonia

12TSPOAP1
P:G
12TNR
DefP:G

Dystonia

12PURA
Def
12SQSTM1
ModP:G
12DNAJC12
DefP:G

Dystonia

12PSEN1
DisP:R×3

presenilin 1

11PDE2A
P:G×2

Dystonia

11EPG5
DefP:R
11ST3GAL5
DefP:R
11FITM2
DefP:G

Limb dystonia

10COL6A1
Def

Torticollis

10EIF2AK2
P:G

Limb dystonia

10GRIN2B
Def

Dystonia

10HNRNPH1
DefP:G

Dystonia

10COX20
DefP:G

Limb dystonia

10TAF1
P:G×3

Dystonia

10C11ORF65
10VPS4A
P:G
10ITPR1
DefP:A

Dystonia

10ZNF142

Dystonia

9SNAP25
Def

synaptosome associated protein 25

9MMAA
DefP:R
9MOCS1
DefP:R
9AOPEP

Arm dystonia

9CWF19L1
DefP:A

Dystonia

9VPS11
DefP:A

Laryngeal dystonia

9SDHB
DefSFP:R

Dystonia

8CTC1
Def

Dystonia

8SHQ1
P:G

Dystonia

8MDH2
P:R

Dystonia

Possible

54 genes — click to expand
8NUP54
P:G

Generalized dystonia

8WARS2
Def

Dystonia

8ATN1
DefP:R×2

Dystonia

7PLEKHG2

Dystonia

7DEGS1
Def

Dystonia

7MICU1
Def

Dystonia

7GABRB2
Def
7GRIA2
Def
7SLC9A6
DefP:R

Limb dystonia

7MED23
Mod

Dystonia

7ZNF526

zinc finger protein 526

7TMEM151A
P:G

Torticollis

7VCP
Def

Dystonia

7PIGA
DefP:R

Dystonia

7SNCAIP
P:R

Dystonia

7KCNN2

Torticollis

6AARS2
DefP:R

Dystonia

6CASD1
6MVP-DT
6PTPRA
6TMPPE
6ARF3

ARF GTPase 3

6BCKDK
DefP:R

Dystonia

6LIPT2
Lim

Dystonia

5CTCF
Def

Dystonia

5RHOBTB2
Def

Paroxysmal dystonia

5DYT7

Dystonia-7, torsion

5TSFM
DefP:R

Dystonia

5CLCN4
Def

Dystonia

5GCSH
Def

Dystonia

5TSEN2
P:R

Dystonia

5GAD1
Def

Dystonia

4GRIK2
Def

Torticollis

4CDK19
4EIPR1
4HECTD4
4LNCR-SMAL
4MFSD2A
4RECQL
Dis
4TPI1

Dystonia

4ATP5PO
Str

Dystonia

4TRPM3
Def

Torticollis

4COL4A1
Def

Dystonia

4FTH1
Mod

Dystonia

3GTF3C3

Dystonia

3POLR3K
Lim

Dystonia

3SPTBN1
Def

Torticollis

3GDAP2
Str

Torticollis

3STN1
Mod

Dystonia

3AP4B1
Def

Dystonia

3BSCL2
Def

Dystonia

3PCGF2
Def

Torticollis

3TMEM106B
Def

Dystonia

3TRAPPC11
Def

Dystonia

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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.