Genes associated with “spinocerebellar ataxia”

Diagnostic yield calculator →

146 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

60 genes

CACNA1G →

calcium voltage-gated channel subunit alpha1 G

score

ClinGen: DefinitivePanel: Green (4) ↑GTR ↑

Frequency

P/LP Variants

OT Score

0.83

FXN →

frataxin

score

ClinGen: DefinitivePanel: Green (4) ↑GTR ↑

Frequency

P/LP Variants

OT Score

0.86

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

ANO10 →

anoctamin 10

score

ClinGen: DefinitivePanel: Green (4) ↑GTR ↑

Frequency

P/LP Variants

OT Score

0.80

SNX14 →

sorting nexin 14

score

ClinGen: DefinitivePanel: Green (4) ↑GTR ↑

Frequency

P/LP Variants

OT Score

0.80

CWF19L1 →

CWF19 like cell cycle control factor 1

score

ClinGen: DefinitivePanel: Green (4) ↑GTR ↑

Frequency

P/LP Variants

OT Score

0.79

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

44CAMTA1

DefP:G×4

calmodulin binding transcription activator 1

CAMTA1DefP:G×4

0.80

calmodulin binding transcription activator 1

42ATXN2

DefP:R×4#1

ATXN2DefP:R×4#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

39SETX

DefP:G×4

senataxin

SETXDefP:G×4

0.83

senataxin

39ATP8A2

DefP:G×4

ATPase phospholipid transporting 8A2

ATP8A2DefP:G×4

0.81

ATPase phospholipid transporting 8A2

39VLDLR

DefP:G×4

very low density lipoprotein receptor

VLDLRDefP:G×4

0.79

very low density lipoprotein receptor

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

0.81

vacuolar protein sorting 13 homolog D

37STUB1

P:G×4

STIP1 homology and U-box containing protein 1

STUB1P:G×4

0.85

STIP1 homology and U-box containing protein 1

36FLVCR1

DefP:G×4

FLVCR choline and heme transporter 1

FLVCR1DefP:G×4

0.83

FLVCR choline and heme transporter 1

36DNMT1

DefP:G×4

DNA methyltransferase 1

DNMT1DefP:G×4

0.81

DNA methyltransferase 1

36PRKCG

P:G×4

protein kinase C gamma

PRKCGP:G×4

0.79

protein kinase C gamma

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

0.84

glutamate metabotropic receptor 1

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

0.79

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

0.82

potassium voltage-gated channel subfamily D member 3

32GRID2

P:G×4

glutamate ionotropic receptor delta type subunit 2

GRID2P:G×4

0.81

glutamate ionotropic receptor delta type subunit 2

32ABCB7

ModP:G×4

ATP binding cassette subfamily B member 7

ABCB7ModP:G×4

0.82

ATP binding cassette subfamily B member 7

32SAMD9L

DefP:G

sterile alpha motif domain containing 9 like

SAMD9LDefP:G

0.81

sterile alpha motif domain containing 9 like

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

29TDP2

DefP:G×2

TDP2DefP:G×2

28TMEM240

P:G×4

transmembrane protein 240

TMEM240P:G×4

0.80

transmembrane protein 240

27ATG7

StrP:G×2

ATG7StrP:G×2

27CACNA1A

P:G×4

CACNA1AP:G×4

25ATXN3

P:R×4#3

Spinocerebellar tract degeneration

ATXN3P:R×4#3

Spinocerebellar tract degeneration

24CA8

ModP:G×4

CA8ModP:G×4

24SIL1

DefP:G×4

SIL1 nucleotide exchange factor

SIL1DefP:G×4

0.81

SIL1 nucleotide exchange factor

24ATP1A3

DefP:G×4

ATPase Na+/K+ transporting subunit alpha 3

ATP1A3DefP:G×4

0.79

ATPase Na+/K+ transporting subunit alpha 3

23PDYN

LimP:G×4

prodynorphin

PDYNLimP:G×4

0.79

prodynorphin

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

22TPP1

DefP:G×4

TPP1DefP: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

21WDR81

P:G×4

WD repeat domain 81

WDR81P:G×4

0.82

WD repeat domain 81

21PNPLA6

DefP:G×4

PNPLA6DefP: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

21PNPT1

ModP:G×3

PNPT1ModP:G×3

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

20TMEM138

ModP:G

transmembrane protein 138

TMEM138ModP:G

0.81

transmembrane protein 138

Consider

42 genes

Score

Gene

Evidence

Freq

P/LP

Description

19SCYL1

P:G×3

SCYL1P:G×3

19TGM6

P:G×4

TGM6P:G×4

19VPS41

P:G×3

VPS41P:G×3

18ELOVL4

DefP:G×4

ELOVL4DefP:G×4

18PMPCA

DefP:G×4

PMPCADefP:G×4

18UBA5

DefP:G

UBA5DefP:G

18CCDC88C

P:R×4

CCDC88CP:R×4

18KIAA0586

P:G

KIAA0586

KIAA0586P:G

0.80

KIAA0586

17FGF14

P:G×4

FGF14P:G×4

17XRCC1

P:G×4

XRCC1P:G×4

16RNU12

ModP:R×2

RNU12ModP:R×2

15ATP2B3

P:G×4

ATP2B3P:G×4

15RAB3A

P:G×4

RAB3AP:G×4

15FAT2

P:G

FAT2P:G

15NPTX1

LimP:G×3

NPTX1LimP:G×3

15THG1L

LimP:G×3

THG1LLimP:G×3

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

13SCA51

SPINOCEREBELLAR ATAXIA 51; SCA51

SCA51

SPINOCEREBELLAR ATAXIA 51; SCA51

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

13TTBK2

P:G×4

TTBK2P:G×4

13PLP1

Def#4

Spinocerebellar tract degeneration

PLP1Def#4

Spinocerebellar tract degeneration

12PPP2R2B

P:R×4

PPP2R2BP:R×4

11MME

DefP:R

MMEDefP:R

10ZFHX3

P:R×2

ZFHX3P:R×2

10VWA3B

Def

NSD1Def

Possible

40 genes — click to expand

Score

Gene

Evidence

Freq

P/LP

Description

7ERCC5

Def

ERCC5Def

7TPP2

Def

TPP2Def

7MAN2B1

Def#5

Spinocerebellar tract disease in lower limbs

MAN2B1Def#5

Spinocerebellar tract disease in lower limbs

6ADAMTS9

Str

ADAMTS9Str

5PRICKLE2

Lim

PRICKLE2Lim

5SCA2

SPINOCEREBELLAR ATAXIA 2; SCA2

SCA2

SPINOCEREBELLAR ATAXIA 2; SCA2

5SCA20

Spinocerebellar ataxia 20

SCA20

Spinocerebellar ataxia 20

5SCA27A

SPINOCEREBELLAR ATAXIA 27A; SCA27A

SCA27A

SPINOCEREBELLAR ATAXIA 27A; SCA27A

5SCA31

SPINOCEREBELLAR ATAXIA 31; SCA31

SCA31

SPINOCEREBELLAR ATAXIA 31; SCA31

5SCA4

SPINOCEREBELLAR ATAXIA 4; SCA4

SCA4

SPINOCEREBELLAR ATAXIA 4; SCA4

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