Genes associated with “spinocerebellar ataxia”

Diagnostic yield calculator →

162 genes foundHPO: Spinocerebellar tract degenerationOpen Targets: cerebellar ataxia5 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

57 genes

CACNA1G →

calcium voltage-gated channel subunit alpha1 G

score

ClinGen: DefinitivePanel: Green (4) ↑GTR ↑

Frequency

P/LP Variants

OT Score

0.83

SPTBN2 →

spectrin beta, non-erythrocytic 2

score

ClinGen: DefinitivePanel: Green (4) ↑GTR ↑

Frequency

P/LP Variants

OT Score

0.84

AFG3L2 →

AFG3 like matrix AAA peptidase subunit 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

0.81

SNX14 →

sorting nexin 14

score

ClinGen: DefinitivePanel: Green (4) ↑GTR ↑

Frequency

P/LP Variants

OT Score

0.79

ANO10 →

anoctamin 10

score

ClinGen: DefinitivePanel: Green (4) ↑GTR ↑

Frequency

P/LP Variants

OT Score

0.79

CWF19L1 →

CWF19 like cell cycle control factor 1

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

0.77

ITPR1 →

inositol 1,4,5-trisphosphate receptor type 1

score

ClinGen: DefinitivePanel: Green (4) ↑GTR ↑

Frequency

P/LP Variants

OT Score

0.85

Score

Gene

Evidence

Freq

P/LP

Description

45ATM

DefP:G×5

ATM serine/threonine kinase

ATMDefP:G×5

0.88

ATM serine/threonine kinase

45ATXN2

DefP:R×4#1

Spinocerebellar tract degeneration

ATXN2DefP:R×4#1

Spinocerebellar tract degeneration

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

0.85

potassium voltage-gated channel subfamily C member 3

40FXN

DefP:G×4

frataxin

FXNDefP:G×4

0.86

frataxin

40ATG7

StrP:G×2

autophagy related 7

ATG7StrP:G×2

0.78

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

36DNMT1

DefP:G×4

DNA methyltransferase 1

DNMT1DefP:G×4

0.81

DNA methyltransferase 1

36FLVCR1

DefP:G×4

FLVCR choline and heme transporter 1

FLVCR1DefP:G×4

0.79

FLVCR choline and heme transporter 1

36PRKCG

P:G×4

protein kinase C gamma

PRKCGP:G×4

0.79

protein kinase C gamma

36FGF14

P:G×4

fibroblast growth factor 14

FGF14P:G×4

0.78

fibroblast growth factor 14

35PEX6

DefP:G×3

peroxisomal biogenesis factor 6

PEX6DefP:G×3

0.81

peroxisomal biogenesis factor 6

35TWNK

DefP:G×4

twinkle mtDNA helicase

TWNKDefP:G×4

0.82

twinkle mtDNA helicase

35GRM1

P:G×4

glutamate metabotropic receptor 1

GRM1P:G×4

0.81

glutamate metabotropic receptor 1

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

33KCND3

DisP:G×4

potassium voltage-gated channel subfamily D member 3

KCND3DisP:G×4

0.81

potassium voltage-gated channel subfamily D member 3

32ABCB7

ModP:G×4

ATP binding cassette subfamily B member 7

ABCB7ModP:G×4

0.82

ATP binding cassette subfamily B member 7

32SCYL1

P:G×3

SCY1 like pseudokinase 1

SCYL1P:G×3

0.77

SCY1 like pseudokinase 1

30CYP27A1

DefP:G×4

cytochrome P450 family 27 subfamily A member 1

CYP27A1DefP:G×4

0.87

cytochrome P450 family 27 subfamily A member 1

30SAMD9L

DefP:G

sterile alpha motif domain containing 9 like

SAMD9LDefP:G

0.80

sterile alpha motif domain containing 9 like

30GRID2

P:G×4

glutamate ionotropic receptor delta type subunit 2

GRID2P:G×4

0.79

glutamate ionotropic receptor delta type subunit 2

29TDP2

DefP:G×2

TDP2DefP:G×2

28TMEM240

P:G×4

transmembrane protein 240

TMEM240P:G×4

0.80

transmembrane protein 240

28CA8

ModP:G×4

CA8ModP:G×4

25ATXN3

P:R×4#3

Spinocerebellar tract degeneration

ATXN3P:R×4#3

Spinocerebellar tract degeneration

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

22SPG7

DefP:G×4

SPG7DefP:G×4

22TDP1

P:G×4#7

TDP1P:G×4#7

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

0.85

centrosomal protein 290

21TMEM231

DefP:G

transmembrane protein 231

TMEM231DefP:G

0.83

transmembrane protein 231

21TPP1

DefP:G×4

TPP1DefP:G×4

21TMEM216

DefP:G

transmembrane protein 216

TMEM216DefP:G

0.81

transmembrane protein 216

21TMEM237

DefP:G

transmembrane protein 237

TMEM237DefP:G

0.80

transmembrane protein 237

21ATXN1

P:R×4#2

Spinocerebellar tract degeneration

ATXN1P:R×4#2

Spinocerebellar tract degeneration

21GDAP2

StrP:G

GDAP2StrP:G

21CSPP1

DefP:G

centrosome and spindle pole associated protein 1

CSPP1DefP:G

0.80

centrosome and spindle pole associated protein 1

21RPGRIP1L

DefP:G

RPGRIP1 like

RPGRIP1LDefP:G

0.79

RPGRIP1 like

21WDR81

P:G×4

WD repeat domain 81

WDR81P:G×4

0.78

WD repeat domain 81

21WDR73

P:G×4

WD repeat domain 73

WDR73P:G×4

0.77

WD repeat domain 73

20PNPT1

ModP:G×3

PNPT1ModP:G×3

20TMEM138

ModP:G

transmembrane protein 138

TMEM138ModP:G

0.81

transmembrane protein 138

Consider

42 genes

Score

Gene

Evidence

Freq

P/LP

Description

19TGM6

P:G×4

TGM6P:G×4

19VPS41

P:G×3

VPS41P:G×3

18PMPCA

DefP:G×4

PMPCADefP:G×4

18PNPLA6

DefP:G×4

PNPLA6DefP:G×4

18UBA5

DefP:G

UBA5DefP:G

18CCDC88C

P:R×4

CCDC88CP:R×4

18KIAA0586

P:G

KIAA0586

KIAA0586P:G

0.79

KIAA0586

17XRCC1

P:G×4

XRCC1P:G×4

16COA7

DefP:G×3

COA7DefP:G×3

16ELOVL4

DefP:G×4

ELOVL4DefP:G×4

16FAT2

P:G

FAT2P:G

15ATP2B3

P:G×4

ATP2B3P:G×4

15RAB3A

P:G×4

RAB3AP:G×4

15NPTX1

LimP:G×3

NPTX1LimP:G×3

15THG1L

LimP:G×3

THG1LLimP:G×3

15CPLANE1

Def

ciliogenesis and planar polarity effector complex subunit 1

CPLANE1Def

0.77

ciliogenesis and planar polarity effector complex subunit 1

14RNU12

ModP:R×2

RNU12ModP:R×2

14ATXN7

P:R×4#9

ATXN7P:R×4#9

13SCA27B

SPINOCEREBELLAR ATAXIA 27B, LATE-ONSET; SCA27B

SCA27B

SPINOCEREBELLAR ATAXIA 27B, LATE-ONSET; SCA27B

13SCA34

SPINOCEREBELLAR ATAXIA 34; SCA34

SCA34

SPINOCEREBELLAR ATAXIA 34; SCA34

13SCA40

SPINOCEREBELLAR ATAXIA 40; SCA40

SCA40

SPINOCEREBELLAR ATAXIA 40; SCA40

13SCA41

SPINOCEREBELLAR ATAXIA 41; SCA41

SCA41

SPINOCEREBELLAR ATAXIA 41; SCA41

13SCA42

SPINOCEREBELLAR ATAXIA 42; SCA42

SCA42

SPINOCEREBELLAR ATAXIA 42; SCA42

13SCA45

SPINOCEREBELLAR ATAXIA 45; SCA45

SCA45

SPINOCEREBELLAR ATAXIA 45; SCA45

13SCA48

SPINOCEREBELLAR ATAXIA 48; SCA48

SCA48

SPINOCEREBELLAR ATAXIA 48; SCA48

13SCA49

SPINOCEREBELLAR ATAXIA 49; SCA49

SCA49

SPINOCEREBELLAR ATAXIA 49; SCA49

13SCAN2

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2; SCAN2

SCAN2

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2; SCAN2

13SCAR15

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15

SCAR15

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15

13SCAR16

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16; SCAR16

SCAR16

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16; SCAR16

13SCAR17

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17; SCAR17

SCAR17

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17; SCAR17

13SCAR25

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25; SCAR25

SCAR25

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25; SCAR25

13SCAR26

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26; SCAR26

SCAR26

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26; SCAR26

13SCAR27

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27; SCAR27

SCAR27

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27; SCAR27

13PLP1

Def#4

Spinocerebellar tract degeneration

PLP1Def#4

Spinocerebellar tract degeneration

10ZFHX3

P:R×2

ZFHX3P:R×2

10VWA3B

Def

ANKRD11Def

9MME

DefP:R

MMEDefP:R

9NSD1

Def

NSD1Def

8NPHP3-ACAD11

NPHP3-ACAD11

Possible

59 genes — click to expand

Score

Gene

Evidence

Freq

P/LP

Description

7ERCC5

Def

ERCC5Def

7GAN

Def

GANDef

7GCSH

Def

GCSHDef

7MUTYH

DefSF

MUTYHDefSF

7TPP2

Def

TPP2Def

7MAN2B1

Def#5

Spinocerebellar tract disease in lower limbs

MAN2B1Def#5

Spinocerebellar tract disease in lower limbs

6ATXN8OS

ATXN8OS

5ADAMTS9

Lim

ADAMTS9Lim

5PRICKLE2

Lim

PRICKLE2Lim

5SCA2

SPINOCEREBELLAR ATAXIA 2; SCA2

SCA2

SPINOCEREBELLAR ATAXIA 2; SCA2

5SCA20

Spinocerebellar ataxia 20

SCA20

Spinocerebellar ataxia 20

5SCA31

SPINOCEREBELLAR ATAXIA 31; SCA31

SCA31

SPINOCEREBELLAR ATAXIA 31; SCA31

5SCA4

SPINOCEREBELLAR ATAXIA 4; SCA4

SCA4

SPINOCEREBELLAR ATAXIA 4; SCA4

5SCAR12

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12; SCAR12

SCAR12

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12; SCAR12

5SCAR21

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21; SCAR21

SCAR21

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21; SCAR21

5SCAR4

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4; SCAR4

SCAR4

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4; SCAR4

5THAP11

Lim

THAP11Lim