Genes associated with “spinocerebellar ataxia”

453 genes foundHPO: Spinocerebellar tract degenerationOpen Targets: cerebellar ataxia2961 ClinVar P/LP variants5 PanelApp panels

Some sources returned errors (2)

omim: Error: OMIM search: 429

omimClinSyn: Error: OMIM CS: 429

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

ITPR1 →

inositol 1,4,5-trisphosphate receptor type 1

score

ClinGen: DefinitivePanel: Green (4) ↑GTR ↑

Frequency

P/LP Variants

OT Score

0.85

SPTBN2 →

spectrin beta, non-erythrocytic 2

score

ClinGen: DefinitivePanel: Green (4) ↑GTR ↑

Frequency

P/LP Variants

OT Score

0.84

SYNE1 →

spectrin repeat containing nuclear envelope protein 1

score

ClinGen: DefinitivePanel: Green (4) ↑GTR ↑

Frequency

P/LP Variants

OT Score

0.80

ANO10 →

anoctamin 10

score

ClinGen: DefinitivePanel: Green (4) ↑GTR ↑

Frequency

P/LP Variants

OT Score

0.79

SNX14 →

sorting nexin 14

score

ClinGen: DefinitivePanel: Green (4) ↑GTR ↑

Frequency

P/LP Variants

OT Score

0.79

CACNA1A →

calcium voltage-gated channel subunit alpha1 A

score

Panel: Green (4) ↑GTR ↑

Frequency

P/LP Variants

OT Score

0.79

ATM →

ATM serine/threonine kinase

score

ClinGen: DefinitivePanel: Green (5) ↑GTR ↑

Frequency

P/LP Variants

OT Score

0.88

ATXN2 →

score

ClinGen: DefinitivePanel: Red (4) ↑P2G #1GTR ↑

spinocerebellar ataxia type 2

Frequency

P/LP Variants

OT Score

CWF19L1 →

CWF19 like cell cycle control factor 1

score

ClinGen: DefinitivePanel: Green (4) ↑GTR ↑

Frequency

P/LP Variants

OT Score

0.79

Score

Gene

Evidence

Freq

P/LP

Description

44CAMTA1

DefP:G×4

calmodulin binding transcription activator 1

CAMTA1DefP:G×4

0.78

calmodulin binding transcription activator 1

42KCNC3

DefP:G×4

potassium voltage-gated channel subfamily C member 3

KCNC3DefP:G×4

0.84

potassium voltage-gated channel subfamily C member 3

40FXN

DefP:G×4

frataxin

FXNDefP:G×4

0.85

frataxin

40ATG7

StrP:G×2

autophagy related 7

ATG7StrP:G×2

0.77

autophagy related 7

39SETX

DefP:G×4

senataxin

SETXDefP:G×4

0.82

senataxin

38WWOX

DefP:G×4

WW domain containing oxidoreductase

WWOXDefP:G×4

0.80

WW domain containing oxidoreductase

37VPS13D

LimP:G×4

vacuolar protein sorting 13 homolog D

VPS13DLimP:G×4

0.80

vacuolar protein sorting 13 homolog D

36STUB1

P:G×4

STIP1 homology and U-box containing protein 1

STUB1P:G×4

0.82

STIP1 homology and U-box containing protein 1

36CACNA1G

P:G×4

calcium voltage-gated channel subunit alpha1 G

CACNA1GP:G×4

0.82

calcium voltage-gated channel subunit alpha1 G

36DNMT1

DefP:G×4

DNA methyltransferase 1

DNMT1DefP:G×4

0.81

DNA methyltransferase 1

36KCND3

DisP:G×4

potassium voltage-gated channel subfamily D member 3

KCND3DisP:G×4

0.80

potassium voltage-gated channel subfamily D member 3

36PRKCG

P:G×4

protein kinase C gamma

PRKCGP:G×4

0.79

protein kinase C gamma

36FLVCR1

DefP:G×4

FLVCR choline and heme transporter 1

FLVCR1DefP:G×4

0.79

FLVCR choline and heme transporter 1

36FGF14

P:G×4

fibroblast growth factor 14

FGF14P:G×4

0.79

fibroblast growth factor 14

36AFG3L2

DefP:G×4

AFG3 like matrix AAA peptidase subunit 2

AFG3L2DefP:G×4

0.83

AFG3 like matrix AAA peptidase subunit 2

35PEX6

DefP:G×3

peroxisomal biogenesis factor 6

PEX6DefP:G×3

0.81

peroxisomal biogenesis factor 6

35GRM1

P:G×4

glutamate metabotropic receptor 1

GRM1P:G×4

0.83

glutamate metabotropic receptor 1

35ABCB7

ModP:G×4

ATP binding cassette subfamily B member 7

ABCB7ModP:G×4

0.82

ATP binding cassette subfamily B member 7

35TWNK

DefP:G×4

twinkle mtDNA helicase

TWNKDefP:G×4

0.82

twinkle mtDNA helicase

33PUM1

P:G

pumilio RNA binding family member 1

PUM1P:G

0.78

pumilio RNA binding family member 1

33COQ8A

P:G×4

coenzyme Q8A

COQ8AP:G×4

0.84

coenzyme Q8A

32GRID2

P:G×4

glutamate ionotropic receptor delta type subunit 2

GRID2P:G×4

0.78

glutamate ionotropic receptor delta type subunit 2

32SCYL1

P:G×3

SCY1 like pseudokinase 1

SCYL1P:G×3

0.78

SCY1 like pseudokinase 1

32TGM6

P:G×4

transglutaminase 6

TGM6P:G×4

0.78

transglutaminase 6

31SAMD9L

DefP:G

sterile alpha motif domain containing 9 like

SAMD9LDefP:G

0.81

sterile alpha motif domain containing 9 like

28TMEM240

P:G×4

transmembrane protein 240

TMEM240P:G×4

0.80

transmembrane protein 240

28CA8

ModP:G×4

CA8ModP:G×4

27TDP2

DefP:G×2

TDP2DefP:G×2

26TMEM216

DefP:G

transmembrane protein 216

TMEM216DefP:G

0.80

transmembrane protein 216

25ATXN3

P:R×4#3

Machado-Joseph disease

ATXN3P:R×4#3

Machado-Joseph disease

25TMEM138

ModP:G

transmembrane protein 138

TMEM138ModP:G

0.81

transmembrane protein 138

25CYP27A1

DefP:G×4

cytochrome P450 family 27 subfamily A member 1

CYP27A1DefP:G×4

0.87

cytochrome P450 family 27 subfamily A member 1

22CC2D2A

DefP:G

coiled-coil and C2 domain containing 2A

CC2D2ADefP:G

0.87

coiled-coil and C2 domain containing 2A

22SLC52A2

DefP:G×3

SLC52A2DefP:G×3

22AHI1

DefP:G

Abelson helper integration site 1

AHI1DefP:G

0.86

Abelson helper integration site 1

22TMEM67

DefP:G

transmembrane protein 67

TMEM67DefP:G

0.85

transmembrane protein 67

22CEP290

DefP:G

centrosomal protein 290

CEP290DefP:G

0.84

centrosomal protein 290

21TMEM231

DefP:G

transmembrane protein 231

TMEM231DefP:G

0.83

transmembrane protein 231

21GDAP2

StrP:A

GDAP2StrP:A

21TPP1

DefP:G×4

TPP1DefP:G×4

21ATXN1

P:R×4#2

spinocerebellar ataxia type 1

ATXN1P:R×4#2

spinocerebellar ataxia type 1

21RPGRIP1L

DefP:G

RPGRIP1 like

RPGRIP1LDefP:G

0.79

RPGRIP1 like

21WDR81

P:G×4

WD repeat domain 81

WDR81P:G×4

0.79

WD repeat domain 81

21WDR73

P:G×4

WD repeat domain 73

WDR73P:G×4

0.78

WD repeat domain 73

21TMEM237

DefP:G

transmembrane protein 237

TMEM237DefP:G

0.77

transmembrane protein 237

20PNPT1

ModP:G×3

PNPT1ModP:G×3

Consider

39 genes

Score

Gene

Evidence

Freq

P/LP

Description

20TDP1

P:G×4#7

TDP1P:G×4#7

19SPG7

P:G×4

SPG7P:G×4

18PMPCA

DefP:G×4

PMPCADefP:G×4

18PNPLA6

DefP:G×4

PNPLA6DefP:G×4

18UBA5

DefP:G

UBA5DefP:G

18VPS41

P:G×3

VPS41P:G×3

18CCDC88C

P:R×4

CCDC88CP:R×4

18KIAA0586

P:G

KIAA0586

KIAA0586P:G

0.78

KIAA0586

17NPTX1

LimP:G×3

NPTX1LimP:G×3

17XRCC1

P:G×4

XRCC1P:G×4

16FOLR1

DefP:G×4

FOLR1DefP:G×4

16OPA1

DefP:G×3

OPA1DefP:G×3

15DAGLA

P:G×3

DAGLAP:G×3

15EEF2

P:A×4

EEF2P:A×4

15PRDX3

P:G×3

PRDX3P:G×3

15B4GAT1

ModP:G×3

B4GAT1ModP:G×3

15BBS1

DefP:G×2

BBS1DefP:G×2

15CPLANE1

Def

ciliogenesis and planar polarity effector complex subunit 1

CPLANE1Def

0.77

ciliogenesis and planar polarity effector complex subunit 1

14RUBCN

P:R×4

RUBCNP:R×4

14FAT2

P:A

FAT2P:A

14ATXN7

P:R×4#9

ATXN7P:R×4#9

13ATP2B3

P:G×4

ATP2B3P:G×4

13C2CD3

DefP:G

C2CD3DefP:G

13DHCR7

DefP:G

DHCR7DefP:G

13TTBK2

P:G×4

TTBK2P:G×4

13PLP1

Def#4

hereditary spastic paraplegia 2

PLP1Def#4

hereditary spastic paraplegia 2

12FTH1

ModP:A×2

FTH1ModP:A×2

11CAPN1

P:G

CAPN1P:G

10ZFHX3

P:R×2

ZFHX3P:R×2

10B3GAT3

P:G

B3GAT3P:G

10JMJD8

10SLC36A1

DefSF

MEN1DefSF

9MME

DefP:R

MMEDefP:R

9NSD1

Def

NSD1Def

9SHANK2

Def

SHANK2Def

8GANAB

Def

GANABDef

8RNU12

P:R×2

RNU12P:R×2

Possible

358 genes — click to expand

Score

Gene

Evidence

Freq

P/LP

Description

7BEST1

Def

BEST1Def

7BSCL2

Def

BSCL2Def

7CABP2

Def

CABP2Def

7CPT1A

Def

CPT1ADef

7CTSF

Def

CTSFDef

7DPF2

Def

DPF2Def

7EFEMP2

Def

EFEMP2Def

7FERMT3

Def

FERMT3Def

7FGF3

Def

FGF3Def

7GAN

Def

GANDef

7GCSH

Def

GCSHDef

7IGHMBP2

Def

IGHMBP2Def

7KMT5B

Def

KMT5BDef

7LRP5

Def

LRP5Def

7LRTOMT

Def

LRTOMTDef

7MUTYH

DefSF

MUTYHDefSF

7NDUFS8

Def

NDUFS8Def

7NDUFV1

Def

NDUFV1Def

7PACS1

Def

PACS1Def

7PYGM

Def

PYGMDef

7RASGRP2

Def

RASGRP2Def

7RELA

Def

RELADef

7RNASEH2C

Def

RNASEH2CDef

7SDHAF2

DefSF

SDHAF2DefSF

7SUMF1

Def

SUMF1Def

7TCIRG1

Def

TCIRG1Def

7MAN2B1

Def#5

alpha-mannosidosis

MAN2B1Def#5

alpha-mannosidosis

Mod

ATL3Mod

6DNAJB13

Mod

DNAJB13Mod

6KCNK4

Mod

KCNK4Mod

6STX5

P:R

STX5P:R

6UNC93B1

Mod

UNC93B1Mod

5ADAMTS9

Lim

ADAMTS9Lim

5BANF1

Lim

BANF1Lim

5CLPB

Lim

CLPBLim

5COX8A

Lim

COX8ALim

5GNMT

Lim

GNMTLim

5LIPT2

Lim

LIPT2Lim

5MS4A1

Lim

MS4A1Lim

5NRXN2

Lim

NRXN2Lim

5POLD3

Lim

POLD3Lim

5PRICKLE2

Lim

PRICKLE2Lim

5THAP11

Lim

THAP11Lim

5UQCC3

Lim

UQCC3Lim

4CCS

CCSNo

4CD5

4CD6

Dis

KCNE3Dis

4SF1

4ZP1