Genes associated with “dystonia”

239 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

55 genes

GCH1 →

GTP cyclohydrolase 1

score

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

Frequency

P/LP Variants

OT Score

0.64

GCDH →

glutaryl-CoA dehydrogenase

score

ClinGen: DefinitivePanel: Green (3) ↑P2G #47GTR ↑

Dystonia

Frequency

68%

n=60

P/LP Variants

OT Score

0.42

ATP7B →

ATPase copper transporting beta

score

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

Limb dystonia

Frequency

100%

n=1

P/LP Variants

OT Score

0.50

PANK2 →

pantothenate kinase 2

score

Panel: Green (3) ↑GTR ↑

Dystonia

Frequency

99%

n=67

P/LP Variants

OT Score

0.63

SLC2A1 →

solute carrier family 2 member 1

score

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

Dystonia

Frequency

67%

n=3

P/LP Variants

OT Score

0.55

DDC →

dopa decarboxylase

score

ClinGen: DefinitivePanel: Green (3) ↑P2G #27GTR ↑

Limb dystonia

Frequency

100%

n=11

P/LP Variants

OT Score

0.37

WDR45 →

WD repeat domain 45

score

ClinGen: DefinitivePanel: Green (3) ↑GTR ↑

Frequency

P/LP Variants

OT Score

0.61

FA2H →

fatty acid 2-hydroxylase

score

ClinGen: DefinitivePanel: Green (3) ↑P2G #6GTR ↑

Dystonia

Frequency

78%

n=9

P/LP Variants

OT Score

0.46

ATP1A3 →

ATPase Na+/K+ transporting subunit alpha 3

score

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

Arm dystonia

Frequency

100%

n=1

P/LP Variants

OT Score

0.42

Score

Gene

Evidence

Freq

P/LP

Description

40SLC19A3

DefP:G×3

Dystonia

SLC19A3DefP:G×3

100%

0.37

Dystonia

40PRKRA

P:G×3

Generalized dystonia

PRKRAP:G×3

100%

0.51

Generalized dystonia

39SPR

DefP:G×3

Dystonia

SPRDefP:G×3

50%

0.55

Dystonia

36ADCY5

DefP:G×3

Dystonia

ADCY5DefP:G×3

100%

0.47

Dystonia

35TUBB4A

DefP:G×3

Dystonia

TUBB4ADefP:G×3

91%

0.51

Dystonia

34THAP1

P:G×3

Oromandibular dystonia

THAP1P:G×3

48%

0.59

Oromandibular dystonia

34ATM

DefP:G×3#12

ATMDefP:G×3#12

33NPC2

DefP:G×3

NPC intracellular cholesterol transporter 2

NPC2DefP:G×3

0.37

NPC intracellular cholesterol transporter 2

33SLC6A3

DefP:G×3

Oromandibular dystonia

SLC6A3DefP:G×3

100%

Oromandibular dystonia

33PTS

DefP:G×3

6-pyruvoyltetrahydropterin synthase

PTSDefP:G×3

0.42

6-pyruvoyltetrahydropterin synthase

33PINK1

DefP:G×3

PTEN induced kinase 1

PINK1DefP:G×3

0.51

PTEN induced kinase 1

32HPRT1

DefP:G×3#2

hypoxanthine phosphoribosyltransferase 1

HPRT1DefP:G×3#2

0.37

hypoxanthine phosphoribosyltransferase 1

31ANO3

P:G×3

Arm dystonia

ANO3P:G×3

50%

0.51

Arm dystonia

31SUCLA2

DefP:G×3

Dystonia

SUCLA2DefP:G×3

100%

Dystonia

29ARX

DefP:G×3#14

Focal dystonia

ARXDefP:G×3#14

62%

Focal dystonia

29VPS13A

P:G×3#10

VPS13AP:G×3#10

29KMT2B

DefP:G×3

Dystonia

KMT2BDefP:G×3

100%

0.46

Dystonia

29PRRT2

DefP:G×3#8

PRRT2DefP:G×3#8

28NPC1

DefP:G

Dystonia

NPC1DefP:G

Dystonia

28ATP13A2

DefP:G×3

Dystonia

ATP13A2DefP:G×3

50%

0.51

Dystonia

27HPCA

DefP:G×3

Torsion dystonia

HPCADefP:G×3

100%

Torsion dystonia

27DLAT

ModP:G×3

Dystonia

DLATModP:G×3

50%

0.37

Dystonia

27DCAF17

DefP:G×3

Blepharospasm

DCAF17DefP:G×3

100%

0.46

Blepharospasm

27GLB1

DefP:G×2

GLB1DefP:G×2

27VPS16

P:G×2

Oromandibular dystonia

VPS16P:G×2

16%

0.76

Oromandibular dystonia

26CYP27A1

DefP:G×3

CYP27A1DefP:G×3

26AFG3L2

DefP:G×3

Dystonia

AFG3L2DefP:G×3

0.45

Dystonia

25PLP1

DefP:A×3#7

Writer's cramp

PLP1DefP:A×3#7

100%

Writer's cramp

25GNAO1

DefP:G×3

Dystonia

GNAO1DefP:G×3

25%

Dystonia

24UBTF

DefP:G

Dystonia

UBTFDefP:G

57%

Dystonia

23FBXO7

P:G×3

F-box protein 7

FBXO7P:G×3

0.50

F-box protein 7

23SERAC1

DefP:G×3

serine active site containing 1

SERAC1DefP:G×3

0.37

serine active site containing 1

23SURF1

DefP:G×2#5

Dystonia

SURF1DefP:G×2#5

Dystonia

22QDPR

DefP:G×3

quinoid dihydropteridine reductase

QDPRDefP:G×3

0.42

quinoid dihydropteridine reductase

22NDUFS8

DefP:G×2#17

Dystonia

NDUFS8DefP:G×2#17

100%

Dystonia

21NDUFA2

DefP:G×2

Generalized dystonia

NDUFA2DefP:G×2

50%

Generalized dystonia

21TBC1D24

DefP:G

Writer's cramp

TBC1D24DefP:G

50%

Writer's cramp

21PRKN

DefP:G×3

Dystonia

PRKNDefP:G×3

10%

0.51

Dystonia

21AUH

DefP:A×3

AU RNA binding methylglutaconyl-CoA hydratase

AUHDefP:A×3

0.42

AU RNA binding methylglutaconyl-CoA hydratase

21HEXA

DefP:G×2

HEXADefP:G×2

21ARSA

DefP:G×3

Dystonia

ARSADefP:G×3

Dystonia

21SLC20A2

P:G×3

solute carrier family 20 member 2

SLC20A2P:G×3

0.47

solute carrier family 20 member 2

20PLA2G6

DefP:G×3

PLA2G6DefP:G×3

20PDHX

DefP:G×3

Dystonia

PDHXDefP:G×3

Dystonia

20NDUFAF6

DefP:G×2

Dystonia

NDUFAF6DefP:G×2

100%

Dystonia

20GNB1

DefP:G

G protein subunit beta 1

GNB1DefP:G

0.40

G protein subunit beta 1

Consider

90 genes

Score

Gene

Evidence

Freq

P/LP

Description

20SUOX

DefP:G×3

SUOXDefP:G×3

20TOR1A

P:G×3

Dystonia

TOR1AP:G×3

100%

0.53

Dystonia

19PCCB

DefP:G×2

Dystonia

PCCBDefP:G×2

Dystonia

19NR4A2

DefP:R

NR4A2DefP:R

19SLC16A2

DefP:G

SLC16A2DefP:G

19CHMP2B

DefP:G×3

charged multivesicular body protein 2B

CHMP2BDefP:G×3

0.46

charged multivesicular body protein 2B

18ACTB

DefP:G×3

Oculogyric crisis

ACTBDefP:G×3

100%

Oculogyric crisis

18COL6A3

DefP:A

Torticollis

COL6A3DefP:A

100%

Torticollis

18POLR3A

DefP:G

Dystonia

POLR3ADefP:G

Dystonia

18BCAP31

DefP:G×3

BCAP31DefP:G×3

18SYNJ1

DefP:G×3

Dystonia

SYNJ1DefP:G×3

33%

Dystonia

17ACOX1

DefP:G

Dystonia

ACOX1DefP:G

Dystonia

17CHD8

Def

Limb dystonia

CHD8Def

80%

Limb dystonia

17CASK

DefP:R

CASKDefP:R

17ETHE1

DefP:R×2

ETHE1DefP:R×2

17SQSTM1

ModP:G

Dystonia

SQSTM1ModP:G

78%

Dystonia

17ECHS1

DefP:G

ECHS1DefP:G

17MED27

DefP:G

mediator complex subunit 27

MED27DefP:G

0.53

mediator complex subunit 27

16SDHA

DefP:R×2#15

Dystonia

SDHADefP:R×2#15

Dystonia

16RNASEH2C

DefP:G×3

Dystonia

RNASEH2CDefP:G×3

Dystonia

16VAMP2

P:G×2

vesicle associated membrane protein 2

VAMP2P:G×2

0.53

vesicle associated membrane protein 2

16ATP1A2

DefP:G×3

Dystonia

ATP1A2DefP:G×3

Dystonia

16RNASEH2B

DefP:G×3

Dystonia

RNASEH2BDefP:G×3

Dystonia

16VPS41

P:G×2

VPS41 subunit of HOPS complex

VPS41P:G×2

0.52

VPS41 subunit of HOPS complex

16SCO2

DefP:R

Limb dystonia

SCO2DefP:R

67%

Limb dystonia

16MECP2

Def

Dystonia

MECP2Def

100%

Dystonia

15GRN

DefP:G

GRNDefP:G

15SCN1A

DefP:G×2

Dystonia

SCN1ADefP:G×2

44%

Dystonia

15RNASEH2A

DefP:A×3

Dystonia

RNASEH2ADefP:A×3

Dystonia

15CBS

DefP:R

CBSDefP:R

15CDKL5

Def

CDKL5Def

15SCN8A

DefP:G×2

SCN8ADefP:G×2

15HIBCH

DefP:G×2

Dystonia

HIBCHDefP:G×2

Dystonia

15SLC18A2

DefP:G

Dystonia

SLC18A2DefP:G

100%

Dystonia

15SCP2

DefP:R×3

Dystonia

SCP2DefP:R×3

100%

Dystonia

14SLC39A14

P:G×3

Dystonia

SLC39A14P:G×3

100%

Dystonia

14COASY

P:G×3

Oromandibular dystonia

COASYP:G×3

50%

Oromandibular dystonia

14FOXG1

DefP:G×3

Dystonia

FOXG1DefP:G×3

Dystonia

14TSPOAP1

P:G

Torticollis

TSPOAP1P:G

100%

Torticollis

14CACNA1E

Def

calcium voltage-gated channel subunit alpha1 E

CACNA1EDef

0.46

calcium voltage-gated channel subunit alpha1 E

13SHQ1

P:G

Dystonia

SHQ1P:G

100%

Dystonia

13CLPB

LimP:G

CLPBLimP:G

13VPS13D

LimP:G

VPS13DLimP:G

13NDUFAF4

DefP:R

Dystonia

NDUFAF4DefP:R

100%

Dystonia

13DLG4

Def

DLG4Def

13DYT1

DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT; DYT1

DYT1

DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT; DYT1

13DYT11

DYSTONIA 11, MYOCLONIC; DYT11

DYT11

DYSTONIA 11, MYOCLONIC; DYT11

13DYT12

DYSTONIA 12; DYT12

DYT12

DYSTONIA 12; DYT12

13DYT2

DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE; DYT2

DYT2

DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE; DYT2

13DYT3

DYSTONIA 3, TORSION, X-LINKED; DYT3

DYT3

DYSTONIA 3, TORSION, X-LINKED; DYT3

13DYT4

DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT; DYT4

DYT4

DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT; DYT4

13DYT9

DYSTONIA 9; DYT9

DYT9

DYSTONIA 9; DYT9

13DYTCA

DYSTONIA WITH CEREBELLAR ATROPHY; DYTCA

DYTCA

DYSTONIA WITH CEREBELLAR ATROPHY; DYTCA

13GJC2

DefP:G

GJC2DefP:G

13GRIN2A

Def

GRIN2ADef

13PURA

Def

PURADef

13RS1

Def

RS1Def

13CAMK4

P:G

calcium/calmodulin dependent protein kinase IV

CAMK4P:G

0.46

calcium/calmodulin dependent protein kinase IV

13KCTD17

P:G

Blepharospasm

KCTD17P:G

38%

Blepharospasm

13PSEN1

DisP:R×3

Dystonia

PSEN1DisP:R×3

0.37

Dystonia

13WDR73

P:G×3

Dystonia

WDR73P:G×3

53%

Dystonia

12DCTN1

ModP:G×3

Dystonia

DCTN1ModP:G×3

25%

Dystonia

12JPH3

P:R#9

Dystonia

JPH3P:R#9

Dystonia

12SPG7

P:A

SPG7P:A

12EIF2AK2

P:G

Dystonia

EIF2AK2P:G

100%

Dystonia

11EPG5

DefP:R

EPG5DefP:R

11STXBP1

Def

STXBP1Def

11POLR3B

Def

POLR3BDef

11TSEN54

P:R

Dystonia

TSEN54P:R

91%

Dystonia

11PCDH12

P:A×3

Dystonia

PCDH12P:A×3

100%

Dystonia

11FUCA1

DefP:G

Dystonia

FUCA1DefP:G

100%

Dystonia

11TNR

DefP:G

Generalized dystonia

TNRDefP:G

100%

Generalized dystonia

10COX20

DefP:G

Limb dystonia

COX20DefP:G

50%

Limb dystonia

10C11ORF65

C11ORF65

10ITPR1

DefP:A

Dystonia

ITPR1DefP:A

100%

Dystonia

10CACNA1G

DefP:G

Dystonia

CACNA1GDefP:G

25%

Dystonia

10LRPPRC

DefP:G

Dystonia

LRPPRCDefP:G

10%

Dystonia

10CYP2U1

DefP:R

Dystonia

CYP2U1DefP:R

14%

Dystonia

9SNAP25

Def

synaptosome associated protein 25

SNAP25Def

0.41

synaptosome associated protein 25

9GRIN2B

Def

Dystonia

GRIN2BDef

Dystonia

9MOCS1

DefP:R

MOCS1DefP:R

9PNPO

DefP:R

PNPODefP:R

9TAF1

P:G×3

Torsion dystonia

TAF1P:G×3

Torsion dystonia

9VPS11

DefP:A

Laryngeal dystonia

VPS11DefP:A

100%

Laryngeal dystonia

8B4GALNT1

Def

Dystonia

B4GALNT1Def

22%

Dystonia

8UPB1

Dystonia

UPB1

25%

Dystonia

8GRIA2

Def

Dystonia

GRIA2Def

Dystonia

8MDH2

P:R

Dystonia

MDH2P:R

67%

Dystonia

8DNAJC6

P:G×2

Dystonia

DNAJC6P:G×2

Dystonia

8GPHN

ModP:R

GPHNModP:R

Possible

47 genes — click to expand

Score

Gene

Evidence

Freq

P/LP

Description

8WARS2

Def

Dystonia

WARS2Def

100%

Dystonia

7FDXR

DefP:R

Dystonia

FDXRDefP:R

100%

Dystonia

7DEGS1

Def

Dystonia

DEGS1Def

Dystonia

7MICU1

Def

Dystonia

MICU1Def

46%

Dystonia

7KCTD7

Def

KCTD7Def

7NUP54

P:G

Leg dystonia

NUP54P:G

33%

Leg dystonia

7ZNF142

zinc finger protein 142

ZNF142

0.46

zinc finger protein 142

7ZNF526

zinc finger protein 526

ZNF526

0.46

zinc finger protein 526

7RNASET2

P:G

Dystonia

RNASET2P:G

14%

Dystonia

ARF GTPase 3

0.41

ARF GTPase 3

6BCKDK

DefP:R

Dystonia

BCKDKDefP:R

20%

Dystonia

6TGM6

P:A

Torticollis

TGM6P:A

36%

Torticollis

6SYNGAP1

Def

Torticollis

SYNGAP1Def

33%

Torticollis

6DMXL2

LimP:R

Dystonia

DMXL2LimP:R

100%

Dystonia

6KAT6A

Def

Dystonia

KAT6ADef

25%

Dystonia

6LIPT2

Lim

Dystonia

LIPT2Lim

33%

Dystonia

6CHRM1

cholinergic receptor muscarinic 1

CHRM1

0.38

cholinergic receptor muscarinic 1

6KCNN2

Dystonia

KCNN2

10%

Dystonia

6ATCAY

P:A

Dystonia

ATCAYP:A

40%

Dystonia

5DDS1

DYSTONIA-DEAFNESS SYNDROME 1; DDS1

DDS1

DYSTONIA-DEAFNESS SYNDROME 1; DDS1

5DYT15

Dystonia-15, myoclonic

DYT15

Dystonia-15, myoclonic

5MTO1

DefP:R

Dystonia

MTO1DefP:R

Dystonia

5CLCN4

Def

Dystonia

CLCN4Def

100%

Dystonia

5MRPS34

ModP:R

Dystonia

MRPS34ModP:R

17%

Dystonia

Def

Generalized dystonia

ALS2Def

33%

Generalized dystonia

4DHX30

Def

Dystonia

DHX30Def

17%

Dystonia

4SPOP

Def

Dystonia

SPOPDef

20%

Dystonia

4KDM6B

Def

Dystonia

KDM6BDef

Dystonia

4TGIF1

Dystonia

TGIF1

100%

Dystonia

4NAXD

Def

Dystonia

NAXDDef

17%

Dystonia

4NAXE

Def

Torticollis

NAXEDef

17%

Torticollis

4SPTBN1

Def

Dystonia

SPTBN1Def

Dystonia

4COL4A1

Def

Dystonia

COL4A1Def

10%

Dystonia

4FTH1

Mod

Dystonia

FTH1Mod

40%

Dystonia

3RFX7

Def

Dystonia

RFX7Def

Dystonia

3GSX2

Lim

Dystonia

GSX2Lim

100%

Dystonia

3MYF5

Torticollis

MYF5

100%

Torticollis

3SNAPC4

Dystonia

SNAPC4

63%

Dystonia

3LGI1

Def

Dystonia

LGI1Def

Dystonia

3TRAPPC11

Def

Dystonia

TRAPPC11Def

Dystonia