Genes associated with “dystonia”

Diagnostic yield calculator →

217 genes foundHPO: DystoniaOpen Targets: dystonic disorder3 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

52 genes

GCH1 →

GTP cyclohydrolase 1

score

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

Dystonia

Frequency

100%

n=1

P/LP Variants

OT Score

0.86

SLC2A1 →

solute carrier family 2 member 1

score

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

Dystonia

Frequency

P/LP Variants

209

OT Score

0.86

SLC6A3 →

solute carrier family 6 member 3

score

ClinGen: DefinitivePanel: Green (3) ↑GTR ↑

Oromandibular dystonia

Frequency

100%

n=11

P/LP Variants

OT Score

0.83

WDR45 →

WD repeat domain 45

score

ClinGen: DefinitivePanel: Green (3) ↑GTR ↑

Dystonia

Frequency

100%

n=5

P/LP Variants

200

OT Score

0.62

ACTB →

actin beta

score

ClinGen: DefinitivePanel: Green (3) ↑GTR ↑

Leg dystonia

Frequency

100%

n=2

P/LP Variants

OT Score

0.74

HPCA →

hippocalcin

score

ClinGen: DefinitivePanel: Green (3) ↑GTR ↑

Frequency

P/LP Variants

OT Score

0.74

ATM →

ATM serine/threonine kinase

score

ClinGen: DefinitivePanel: Green (3) ↑P2G #12GTR ↑

Dystonia

Frequency

P/LP Variants

OT Score

0.59

THAP1 →

THAP domain containing 1

score

Panel: Green (3) ↑GTR ↑

Limb dystonia

Frequency

97%

n=29

P/LP Variants

OT Score

0.86

SPR →

sepiapterin reductase

score

ClinGen: DefinitivePanel: Green (3) ↑GTR ↑

Frequency

P/LP Variants

OT Score

0.83

Score

Gene

Evidence

Freq

P/LP

Description

40PRRT2

DefP:G×3#8

proline rich transmembrane protein 2

PRRT2DefP:G×3#8

0.86

proline rich transmembrane protein 2

40ATP1A3

DefP:G×3

ATPase Na+/K+ transporting subunit alpha 3

ATP1A3DefP:G×3

0.84

ATPase Na+/K+ transporting subunit alpha 3

39COL6A3

DefP:A

Writer's cramp

COL6A3DefP:A

80%

0.76

Writer's cramp

38SLC18A2

DefP:G

Oculogyric crisis

SLC18A2DefP:G

100%

0.77

Oculogyric crisis

38PLA2G6

DefP:G×3

Dystonia

PLA2G6DefP:G×3

100%

0.82

Dystonia

37TUBB4A

DefP:G×3

Hemidystonia

TUBB4ADefP:G×3

13%

0.80

Hemidystonia

35BCAP31

DefP:G×3

Dystonia

BCAP31DefP:G×3

100%

0.75

Dystonia

35ATP7B

DefSFP:G×3#4

Dystonia

ATP7BDefSFP:G×3#4

Dystonia

34ANO3

P:G×3

Blepharospasm

ANO3P:G×3

13%

0.80

Blepharospasm

30VPS13A

P:G×3#10

Dystonia

VPS13AP:G×3#10

231

Dystonia

30SLC19A3

DefP:G×3

SLC19A3DefP:G×3

30GCDH

DefP:G×3

GCDHDefP:G×3

30DCAF17

DefP:G×3

DDB1 and CUL4 associated factor 17

DCAF17DefP:G×3

0.81

DDB1 and CUL4 associated factor 17

30NPC2

DefP:G×3

Dystonia

NPC2DefP:G×3

Dystonia

29CACNA1A

P:G×3

Dystonia

CACNA1AP:G×3

Dystonia

28VAC14

P:G×3

Dystonia

VAC14P:G×3

100%

0.74

Dystonia

28GNAO1

DefP:G×3

GNAO1DefP:G×3

28NR4A2

DefP:R

nuclear receptor subfamily 4 group A member 2

NR4A2DefP:R

0.78

nuclear receptor subfamily 4 group A member 2

27NPC1

DefP:G

NPC1DefP:G

27PRKRA

P:G×3

protein activator of interferon induced protein kinase EIF2AK2

PRKRAP:G×3

0.77

protein activator of interferon induced protein kinase EIF2AK2

27GLB1

DefP:G×2

GLB1DefP:G×2

26DDC

DefP:G×3

Oculogyric crisis

DDCDefP:G×3

100%

Oculogyric crisis

26CYP27A1

DefP:G×3

CYP27A1DefP:G×3

25KMT2B

DefP:G×3

Craniofacial dystonia

KMT2BDefP:G×3

0.83

Craniofacial dystonia

25PDHA1

DefP:G×2#3

Dystonia

PDHA1DefP:G×2#3

Dystonia

24PTS

DefP:G×3

PTSDefP:G×3

24UBTF

DefP:G

Dystonia

UBTFDefP:G

57%

Dystonia

23MECR

ModP:G×3

mitochondrial trans-2-enoyl-CoA reductase

MECRModP:G×3

0.80

mitochondrial trans-2-enoyl-CoA reductase

23HIBCH

DefP:G×2

HIBCHDefP:G×2

23PANK2

P:G×3

pantothenate kinase 2

PANK2P:G×3

0.63

pantothenate kinase 2

22TMEM151A

P:G

Dystonia

TMEM151AP:G

81%

0.61

Dystonia

22TPK1

ModP:G×3

Dystonia

TPK1ModP:G×3

60%

Dystonia

22TOR1A

P:G×3

Blepharospasm

TOR1AP:G×3

0.80

Blepharospasm

22PRKN

DefP:G×3

Focal dystonia

PRKNDefP:G×3

33%

0.52

Focal dystonia

22VPS16

P:G×2

Writer's cramp

VPS16P:G×2

16%

0.77

Writer's cramp

21KCTD17

P:G

Dystonia

KCTD17P:G

88%

0.67

Dystonia

21POLR3A

DefP:G

POLR3ADefP:G

21HEXA

DefP:G×2

HEXADefP:G×2

21ECHS1

DefP:G

ECHS1DefP:G

21DLAT

ModP:G×3

Generalized dystonia

DLATModP:G×3

50%

Generalized dystonia

20SCN8A

DefP:G×2

Dystonia

SCN8ADefP:G×2

0.57

Dystonia

20AFG3L2

DefP:G×3

Torticollis

AFG3L2DefP:G×3

33%

Torticollis

20MPV17

DefP:R×3

Dystonia

MPV17DefP:R×3

85%

Dystonia

Consider

82 genes

Score

Gene

Evidence

Freq

P/LP

Description

19FTL

DefP:G×3

Blepharospasm

FTLDefP:G×3

Blepharospasm

19PCCA

DefP:G×2

Dystonia

PCCADefP:G×2

Dystonia

19NDUFA12

DefP:G×3

Dystonia

NDUFA12DefP:G×3

100%

Dystonia

19NDUFS1

DefP:G#16

Dystonia

NDUFS1DefP:G#16

33%

Dystonia

19PDE10A

P:G×2

phosphodiesterase 10A

PDE10AP:G×2

0.75

phosphodiesterase 10A

19WARS2

Def

tryptophanyl tRNA synthetase 2, mitochondrial

WARS2Def

0.73

tryptophanyl tRNA synthetase 2, mitochondrial

19EIF2AK2

P:G

Dystonia

EIF2AK2P:G

44%

0.64

Dystonia

19TSPOAP1

P:G

Laryngeal dystonia

TSPOAP1P:G

100%

0.59

Laryngeal dystonia

19DLD

DefP:G

Dystonia

DLDDefP:G

100%

Dystonia

19VPS41

P:G×2

Generalized dystonia

VPS41P:G×2

100%

0.52

Generalized dystonia

18SLC30A10

P:G×3

Dystonia

SLC30A10P:G×3

93%

Dystonia

18TAF1

P:G×3

TATA-box binding protein associated factor 1

TAF1P:G×3

0.61

TATA-box binding protein associated factor 1

17C19ORF12

DefP:G×3

Generalized dystonia

C19ORF12DefP:G×3

65%

Generalized dystonia

17CHD8

Def

Generalized dystonia

CHD8Def

50%

Generalized dystonia

17NDUFS3

ModP:R×2

Axial dystonia

NDUFS3ModP:R×2

100%

Axial dystonia

17PARK7

DefP:G×3

Blepharospasm

PARK7DefP:G×3

25%

Blepharospasm

17MED27

DefP:G

mediator complex subunit 27

MED27DefP:G

0.53

mediator complex subunit 27

16PINK1

DefP:G×3

Dystonia

PINK1DefP:G×3

Dystonia

16MCOLN1

DefP:R×3

Dystonia

MCOLN1DefP:R×3

Dystonia

16VAMP2

P:G×2

vesicle associated membrane protein 2

VAMP2P:G×2

0.54

vesicle associated membrane protein 2

16SERAC1

DefP:G×3

SERAC1DefP:G×3

16SHQ1

P:G

SHQ1, H/ACA ribonucleoprotein assembly factor

SHQ1P:G

0.66

SHQ1, H/ACA ribonucleoprotein assembly factor

16QDPR

DefP:G×3

Dystonia

QDPRDefP:G×3

Dystonia

16SUOX

DefP:G×3

Generalized dystonia

SUOXDefP:G×3

Generalized dystonia

16FBXO7

P:G×3

Dystonia

FBXO7P:G×3

Dystonia

16GRIN1

DefP:G

Dystonia

GRIN1DefP:G

100%

Dystonia

15UQCRQ

LimP:R

Dystonia

UQCRQLimP:R

100%

Dystonia

15SCN1A

DefP:G×2

Dystonia

SCN1ADefP:G×2

44%

Dystonia

15ANKRD11

Def

ANKRD11Def

15CBS

DefP:R

CBSDefP:R

15AOPEP

Writer's cramp

AOPEP

100%

0.66

Writer's cramp

14NUP54

P:G

nucleoporin 54

NUP54P:G

0.55

nucleoporin 54

14IMPDH2

P:G

inosine monophosphate dehydrogenase 2

IMPDH2P:G

0.55

inosine monophosphate dehydrogenase 2

13PNPT1

ModP:G×3

Dystonia

PNPT1ModP:G×3

100%

Dystonia

13CASK

DefP:R

CASKDefP:R

13EARS2

DefP:R×3

Dystonia

EARS2DefP:R×3

Dystonia

13KCNN2

Dystonia

KCNN2

100%

0.55

Dystonia

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

13DYT30

DYSTONIA 30; DYT30

DYT30

DYSTONIA 30; DYT30

13DYT31

DYSTONIA 31; DYT31

DYT31

DYSTONIA 31; DYT31

13DYT32

DYSTONIA 32; DYT32

DYT32

DYSTONIA 32; DYT32

13DYT33

DYSTONIA 33; DYT33

DYT33

DYSTONIA 33; DYT33

13DYT4

DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT; DYT4

DYT4

DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT; DYT4

13DYTSPG

DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG

DYTSPG

DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG

13IRF2BPL

DefP:G

IRF2BPLDefP:G

13MCIDDS

MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM; MCIDDS

MCIDDS

MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM; MCIDDS

13TBC1D24

DefP:G

TBC1D24DefP:G

13GTPBP2

DefP:G×2

Dystonia

GTPBP2DefP:G×2

43%

Dystonia

12MARS2

DefP:G

Dystonia

MARS2DefP:G

28%

Dystonia

12PRKCG

P:A

Focal dystonia

PRKCGP:A

Focal dystonia

12TNR

DefP:G

Dystonia

TNRDefP:G

54%

Dystonia

12SQSTM1

ModP:G

SQSTM1ModP:G

12SNAP25

Def

synaptosome associated protein 25

SNAP25Def

0.57

synaptosome associated protein 25

12PPP2R2B

P:R×2

Axial dystonia

PPP2R2BP:R×2

Axial dystonia

12COL6A2

Def

Torticollis

COL6A2Def

29%

Torticollis

12SDHD

DefSFP:R

Dystonia

SDHDDefSFP:R

100%

Dystonia

11PDE2A

P:G×2

Dystonia

PDE2AP:G×2

100%

Dystonia

11CTNNB1

Def

CTNNB1Def

11POLR1C

Def

POLR1CDef

11HECW2

DefP:G

Dystonia

HECW2DefP:G

100%

Dystonia

11HTT

DefP:A×2

Dystonia

HTTDefP:A×2

100%

Dystonia

11MMADHC

DefP:R×3

Dystonia

MMADHCDefP:R×3

100%

Dystonia

11SLC39A14

P:G×3

Oromandibular dystonia

SLC39A14P:G×3

33%

Oromandibular dystonia

11CACNA1E

Def

Dystonia

CACNA1EDef

40%

Dystonia

10HNRNPH1

DefP:G

Dystonia

HNRNPH1DefP:G

29%

Dystonia

10GNB1

DefP:G

Dystonia

GNB1DefP:G

15%

Dystonia

9KCTD7

Def

KCTD7Def

9ALDH5A1

DefP:R

ALDH5A1DefP:R

9DHDDS

DefP:G

Dystonia

DHDDSDefP:G

Dystonia

9GJC2

DefP:G

Dystonia

GJC2DefP:G

Dystonia

9MOCS1

DefP:R

MOCS1DefP:R

9VPS11

DefP:A

Limb dystonia

VPS11DefP:A

100%

Limb dystonia

9CLPB

LimP:G

Dystonia

CLPBLimP:G

22%

Dystonia

9ACBD6

P:G

Dystonia

ACBD6P:G

38%

Dystonia

8B4GALNT1

Def

Dystonia

B4GALNT1Def

22%

Dystonia

8NUP62

DisP:R×2

Dystonia

NUP62DisP:R×2

Dystonia

8ACER3

P:G

Dystonia

ACER3P:G

100%

Dystonia

8METTL8

methyltransferase 8, tRNA N3-cytidine

METTL8

0.54

methyltransferase 8, tRNA N3-cytidine

8XPR1

P:G×2

Dystonia

XPR1P:G×2

Dystonia

Possible

47 genes — click to expand

Score

Gene

Evidence

Freq

P/LP

Description

7ROBO3

DefP:R

Torticollis

ROBO3DefP:R

100%

Torticollis

7DEGS1

Def

Dystonia

DEGS1Def

Dystonia

7COQ4

DefP:R

Generalized dystonia

COQ4DefP:R

50%

Generalized dystonia

7POLR3B

Def

Dystonia

POLR3BDef

Dystonia

7CDKL5

Def

CDKL5Def

7PURA

Def

PURADef

7SLC9A6

DefP:R

Limb dystonia

SLC9A6DefP:R

Limb dystonia

7VCP

Def

Dystonia

VCPDef

Dystonia

7COQ9

DefP:R

Dystonia

COQ9DefP:R

100%

Dystonia

7SCN2A

Def

Dystonia

SCN2ADef

100%

Dystonia

7SNCAIP

P:R

Dystonia

SNCAIPP:R

Dystonia

7KIF1C

P:G

Torticollis

KIF1CP:G

14%

Torticollis

6C11ORF65

C11ORF65

6EXOSC3

P:R

EXOSC3P:R

6VAMP1

P:G

Dystonia

VAMP1P:G

Dystonia

6TMEM67

DefP:R

Dystonia

TMEM67DefP:R

17%

Dystonia

6STUB1

P:A

Dystonia

STUB1P:A

38%

Dystonia

6COXFA4

Def

Dystonia

COXFA4Def

75%

Dystonia

5CACNA1B

Mod

Dystonia

CACNA1BMod

83%

Dystonia

5DYT3

DYSTONIA 3, TORSION, X-LINKED; DYT3

DYT3

DYSTONIA 3, TORSION, X-LINKED; DYT3

5DYT6

DYSTONIA 6, TORSION; DYT6

DYT6

DYSTONIA 6, TORSION; DYT6

5PKDYS3

PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3

PKDYS3

PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3

5AGTPBP1

Def

Dystonia

AGTPBP1Def

31%

Dystonia

4CARS2

Mod

Dystonia

CARS2Mod

100%

Dystonia

4AARS1

Def

Dystonia

AARS1Def

50%

Dystonia

4GRIK2

Def

Torticollis

GRIK2Def

50%

Torticollis

Def

Dystonia

ALS2Def

33%

Dystonia

4TPI1

Dystonia

TPI1

Dystonia

4TGFB2

Def

Torticollis

TGFB2Def

13%

Torticollis

4AP3D1

Mod

Dystonia

AP3D1Mod

100%

Dystonia

4HIVEP2

Dystonia

HIVEP2

33%

Dystonia

4NAXD

Def

Generalized dystonia

NAXDDef

17%

Generalized dystonia

4SPTAN1

Def

Dystonia

SPTAN1Def

Dystonia

4TRPM3

Def

Torticollis

TRPM3Def

13%

Torticollis

3CEP85L

Def

Torticollis

CEP85LDef

Torticollis

3KCNA4

Dystonia

KCNA4

100%

Dystonia

3POLR3K

Lim

Dystonia

POLR3KLim

100%

Dystonia

3GDAP2

Str

Torticollis

GDAP2Str

50%

Torticollis

3STN1

Mod

Dystonia

STN1Mod

50%

Dystonia

3AP4B1

Def

Dystonia

AP4B1Def

Dystonia

3BSCL2

Def

Dystonia

BSCL2Def

Dystonia

3COL4A1

Def

Limb dystonia

COL4A1Def

Limb dystonia

3GABRB2

Def

Dystonia

GABRB2Def

Dystonia

3TRIT1

Def

Dystonia

TRIT1Def

Dystonia