Genes associated with “dystonia”

Diagnostic yield calculator →

252 genes foundHPO: Dystonia3 PanelApp panels

Some sources returned errors (1)

openTargets: Error: OT search: 403

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

40 genes

TIMM8A →

score

ClinGen: DefinitivePanel: Green (3) ↑P2G #42GTR ↑

Dystonia

Frequency

100%

n=1

P/LP Variants

OT Score

FTL →

score

ClinGen: DefinitivePanel: Green (3) ↑GTR ↑

Dystonia

Frequency

84%

n=38

P/LP Variants

OT Score

SLC2A1 →

score

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

Paroxysmal dystonia

Frequency

P/LP Variants

OT Score

GNAO1 →

score

ClinGen: DefinitivePanel: Green (3) ↑GTR ↑

Dystonia

Frequency

P/LP Variants

OT Score

ATP1A3 →

score

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

Torticollis

Frequency

P/LP Variants

OT Score

ATM →

score

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

Dystonia

Frequency

P/LP Variants

OT Score

ATP7B →

score

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

Frequency

P/LP Variants

OT Score

PRRT2 →

score

ClinGen: DefinitivePanel: Green (3) ↑P2G #8GTR ↑

Paroxysmal dystonia

Frequency

100%

n=1

P/LP Variants

OT Score

DDC →

score

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

Torticollis

Frequency

64%

n=11

P/LP Variants

OT Score

Score

Gene

Evidence

Freq

P/LP

Description

31SLC19A3

DefP:G×3

Dystonia

SLC19A3DefP:G×3

100%

Dystonia

31FA2H

DefP:G×3#6

FA2HDefP:G×3#6

31SLC6A3

DefP:G×3

Dystonia

SLC6A3DefP:G×3

55%

Dystonia

31ADCY5

DefP:G×3

Dystonia

ADCY5DefP:G×3

100%

Dystonia

30PLA2G6

DefP:G×3

Dystonia

PLA2G6DefP:G×3

100%

Dystonia

30SCN8A

DefP:G×2

Dystonia

SCN8ADefP:G×2

Dystonia

30GCH1

DefP:G×3

Dystonia

GCH1DefP:G×3

100%

Dystonia

30NPC2

DefP:G×3

Dystonia

NPC2DefP:G×3

Dystonia

29VPS13A

P:G×3#10

VPS13AP:G×3#10

29THAP1

P:G×3

Limb dystonia

THAP1P:G×3

97%

Limb dystonia

27NPC1

DefP:G

NPC1DefP:G

27GLB1

DefP:G×2

GLB1DefP:G×2

26CYP27A1

DefP:G×3

CYP27A1DefP:G×3

26PTS

DefP:G×3

PTSDefP:G×3

24VPS16

P:G×2

Dystonia

VPS16P:G×2

100%

Dystonia

24PINK1

DefP:G×3

Dystonia

PINK1DefP:G×3

Dystonia

24UBTF

DefP:G

Dystonia

UBTFDefP:G

57%

Dystonia

23WDR45

DefP:G×3

Dystonia

WDR45DefP:G×3

100%

Dystonia

23TBC1D24

DefP:G

Paroxysmal dystonia

TBC1D24DefP:G

100%

Paroxysmal dystonia

23BCAP31

DefP:G×3

Dystonia

BCAP31DefP:G×3

100%

Dystonia

23KMT2B

DefP:G×3

Craniofacial dystonia

KMT2BDefP:G×3

Craniofacial dystonia

22POLR3A

DefP:G

POLR3ADefP:G

22SUCLA2

DefP:G×3

SUCLA2DefP:G×3

21HIBCH

DefP:G×2

HIBCHDefP:G×2

21PANK2

P:G×3

PANK2P:G×3

21HEXA

DefP:G×2

HEXADefP:G×2

21ARSA

DefP:G×3

Dystonia

ARSADefP:G×3

Dystonia

21DLAT

ModP:G×3

Paroxysmal dystonia

DLATModP:G×3

50%

Paroxysmal dystonia

20PRKRA

P:G×3

Limb dystonia

PRKRAP:G×3

100%

Limb dystonia

20CACNA1A

P:G×3

Dystonia

CACNA1AP:G×3

Dystonia

20MPV17

DefP:R×3

Dystonia

MPV17DefP:R×3

85%

Dystonia

Consider

96 genes

Score

Gene

Evidence

Freq

P/LP

Description

20SLC18A2

DefP:G

Oculogyric crisis

SLC18A2DefP:G

100%

Oculogyric crisis

19PCCA

DefP:G×2

Dystonia

PCCADefP:G×2

Dystonia

19NDUFA12

DefP:G×3

Dystonia

NDUFA12DefP:G×3

100%

Dystonia

19ECHS1

DefP:G

ECHS1DefP:G

19DCAF17

DefP:G×3

Blepharospasm

DCAF17DefP:G×3

100%

Blepharospasm

19IRF2BPL

DefP:G

IRF2BPLDefP:G

18SERAC1

DefP:G×3

SERAC1DefP:G×3

18ACTB

DefP:G×3

Leg dystonia

ACTBDefP:G×3

100%

Leg dystonia

18SLC30A10

P:G×3

Dystonia

SLC30A10P:G×3

93%

Dystonia

18AFG3L2

DefP:G×3

Torticollis

AFG3L2DefP:G×3

33%

Torticollis

18CHD8

Def

Generalized dystonia

CHD8Def

50%

Generalized dystonia

18CLPB

LimP:G

Dystonia

CLPBLimP:G

22%

Dystonia

18TUBB4A

DefP:G×3

Hemidystonia

TUBB4ADefP:G×3

13%

Hemidystonia

18COL6A3

DefP:A

Writer's cramp

COL6A3DefP:A

80%

Writer's cramp

17NDUFAF5

DefP:G

NDUFAF5DefP:G

17NR4A2

DefP:R

NR4A2DefP:R

17CASK

DefP:R

CASKDefP:R

17ETHE1

DefP:R×2

ETHE1DefP:R×2

17SPG7

DefP:A

SPG7DefP:A

17NDUFS3

ModP:R×2

Axial dystonia

NDUFS3ModP:R×2

100%

Axial dystonia

17SQSTM1

ModP:G

Dystonia

SQSTM1ModP:G

78%

Dystonia

17PARK7

DefP:G×3

Blepharospasm

PARK7DefP:G×3

25%

Blepharospasm

16VPS13D

LimP:G

Torticollis

VPS13DLimP:G

Torticollis

16MECR

ModP:G×3

Dystonia

MECRModP:G×3

86%

Dystonia

16TSPOAP1

P:G

Oromandibular dystonia

TSPOAP1P:G

100%

Oromandibular dystonia

16MCOLN1

DefP:R×3

Dystonia

MCOLN1DefP:R×3

Dystonia

16HTRA2

DefP:G×3

Dystonia

HTRA2DefP:G×3

Dystonia

16PRKN

DefP:G×3

PRKNDefP:G×3

16RNASEH2B

DefP:G×3

Dystonia

RNASEH2BDefP:G×3

Dystonia

16SHQ1

P:G

Dystonia

SHQ1P:G

100%

Dystonia

16GRIN1

DefP:G

Dystonia

GRIN1DefP:G

100%

Dystonia

15C19ORF12

DefP:G×3

Oromandibular dystonia

C19ORF12DefP:G×3

42%

Oromandibular dystonia

15GNB1

DefP:G

GNB1DefP:G

15COASY

P:G×3

Dystonia

COASYP:G×3

100%

Dystonia

15KCTD17

P:G

Dystonia

KCTD17P:G

88%

Dystonia

15ANKRD11

Def

ANKRD11Def

15CBS

DefP:R

CBSDefP:R

15CTNNB1

Def

CTNNB1Def

15STXBP1

Def

STXBP1Def

14VPS4A

P:G

Dystonia

VPS4AP:G

83%

Dystonia

13PNPT1

ModP:G×3

Dystonia

PNPT1ModP:G×3

100%

Dystonia

13CACNA1G

DefP:G

CACNA1GDefP:G

13CDKL5

Def

CDKL5Def

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

13GJC2

DefP:G

GJC2DefP:G

13GRIN2A

Def

GRIN2ADef

13GRN

DefP:G

GRNDefP:G

13HMNDYT1

HYPERMANGANESEMIA WITH DYSTONIA 1; HMNDYT1

HMNDYT1

HYPERMANGANESEMIA WITH DYSTONIA 1; HMNDYT1

13LKDMN

LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY; LKDMN

LKDMN

LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY; LKDMN

13SLC39A14

P:G×3

SLC39A14P:G×3

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

12TMEM151A

P:G

Dystonia

TMEM151AP:G

81%

Dystonia

12PURA

Def

PURADef

12COL6A2

Def

Torticollis

COL6A2Def

29%

Torticollis

11PDE2A

P:G×2

Dystonia

PDE2AP:G×2

100%

Dystonia

11VAC14

P:G×3

Dystonia

VAC14P:G×3

100%

Dystonia

11DLG4

Def

DLG4Def

11ST3GAL5

DefP:R

ST3GAL5DefP:R

11KCNN2

Dystonia

KCNN2

100%

Dystonia

11ACSF3

DefP:A

ACSF3DefP:A

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

11CACNA1E

Def

Dystonia

CACNA1EDef

40%

Dystonia

10COL6A1

Def

Torticollis

COL6A1Def

Torticollis

10HNRNPH1

DefP:G

Dystonia

HNRNPH1DefP:G

29%

Dystonia

10C11ORF65

C11ORF65

10SUCLG1

ModP:R×2

SUCLG1ModP:R×2

10VPS41

P:G×2

Generalized dystonia

VPS41P:G×2

100%

Generalized dystonia

10DNAJC12

DefP:G

Oculogyric crisis

DNAJC12DefP:G

17%

Oculogyric crisis

10ANO3

P:G×3

Blepharospasm

ANO3P:G×3

13%

Blepharospasm

9GALNS

DefP:R

GALNSDefP:R

9MMAA

DefP:R

MMAADefP:R

9MOCS1

DefP:R

MOCS1DefP:R

9TOR1A

P:G×3

Writer's cramp

TOR1AP:G×3

Writer's cramp

9AOPEP

Writer's cramp

AOPEP

100%

Writer's cramp

9POLR3B

Def

Dystonia

POLR3BDef

100%

Dystonia

9VPS11

DefP:A

Limb dystonia

VPS11DefP:A

100%

Limb dystonia

9ACBD6

P:G

Dystonia

ACBD6P:G

38%

Dystonia

8CTC1

Def

Dystonia

CTC1Def

Dystonia

8B4GALNT1

Def

Dystonia

B4GALNT1Def

22%

Dystonia

8NUP62

DisP:R×2

Dystonia

NUP62DisP:R×2

Dystonia

8ACER3

P:G

Dystonia

ACER3P:G

100%

Dystonia

8EIF2AK2

P:G

Dystonia

EIF2AK2P:G

44%

Dystonia

8VPS37A

LimP:R×3

Dystonia

VPS37ALimP:R×3

22%

Dystonia

8GABRB2

Def

Dystonia

GABRB2Def

Dystonia

8TTBK2

P:A

TTBK2P:A

8XPR1

P:G×2

Dystonia

XPR1P:G×2

Dystonia

Possible

83 genes — click to expand

Score

Gene

Evidence

Freq

P/LP

Description

8UBA5

Def

Dystonia

UBA5Def

100%

Dystonia

7ROBO3

DefP:R

Torticollis

ROBO3DefP:R

100%

Torticollis

7PLEKHG2

Dystonia

PLEKHG2

60%

Dystonia

7DEGS1

Def

Dystonia

DEGS1Def

Dystonia

7COQ4

DefP:R

Generalized dystonia

COQ4DefP:R

50%

Generalized dystonia

7CDT1

Def

CDT1Def

7CORO1A

Def

CORO1ADef

7GRIA2

Def

GRIA2Def

7PIEZO1

Def

PIEZO1Def

7WARS2

Def

WARS2Def

7TRPV4

Def

Torticollis

TRPV4Def

Torticollis

7VCP

Def

Dystonia

VCPDef

Dystonia

7SCN2A

Def

Dystonia

SCN2ADef

100%

Dystonia

7SNCAIP

P:R

Dystonia

SNCAIPP:R

Dystonia

7KIF1C

P:G

Torticollis

KIF1CP:G

14%

Torticollis

6CDH15

Dis

CDH15Dis

P:R

ALDOAP:R

6PSEN1

DisP:R×3

Dystonia

PSEN1DisP:R×3

Dystonia

6VAMP1

P:G

Dystonia

VAMP1P:G

Dystonia

6TMEM67

DefP:R

Dystonia

TMEM67DefP:R

17%

Dystonia

6LIPT2

Lim

Dystonia

LIPT2Lim

33%

Dystonia

6SUPT16H

Torticollis

SUPT16H

20%

Torticollis

6COXFA4

Def

Dystonia

COXFA4Def

75%

Dystonia

5CACNA1B

Mod

Dystonia

CACNA1BMod

83%

Dystonia

5PKDYS1

PARKINSONISM-DYSTONIA 1, INFANTILE-ONSET; PKDYS1

PKDYS1

PARKINSONISM-DYSTONIA 1, INFANTILE-ONSET; PKDYS1

5AGTPBP1

Def

Dystonia

AGTPBP1Def

31%

Dystonia

5TMEM240

P:A

Dystonia

TMEM240P:A

20%

Dystonia

5GCSH

Def

Dystonia

GCSHDef

100%

Dystonia

4AARS1

Def

Dystonia

AARS1Def

50%

Dystonia

4GRIK2

Def

Torticollis

GRIK2Def

50%

Torticollis

Dis

RECQLDis

Def

Dystonia

ALS2Def

33%

Dystonia

4TPI1

Dystonia

TPI1

Dystonia

4TGFB2

Def

Torticollis

TGFB2Def

13%

Torticollis

4RARS1

Def

Dystonia

RARS1Def

25%

Dystonia

4AMPD2

P:R

Dystonia

AMPD2P:R

38%

Dystonia

4HIVEP2

Dystonia

HIVEP2

33%

Dystonia

4NAXD

Def

Generalized dystonia

NAXDDef

17%

Generalized 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

3CNTNAP2

Def

Dystonia

CNTNAP2Def

Dystonia