Genes associated with “spinocerebellar ataxia”

Diagnostic yield calculator →

141 genes foundHPO: Spinocerebellar tract degeneration5 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

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Strong Candidates

31 genes

ATXN2 →

score

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

Spinocerebellar tract degeneration

Frequency

P/LP Variants

OT Score

CACNA1G →

score

ClinGen: DefinitivePanel: Green (4) ↑GTR ↑

Frequency

P/LP Variants

OT Score

AFG3L2 →

score

ClinGen: DefinitivePanel: Green (4) ↑GTR ↑

Frequency

P/LP Variants

OT Score

ANO10 →

score

ClinGen: DefinitivePanel: Green (4) ↑GTR ↑

Frequency

P/LP Variants

OT Score

CACNA1A →

score

Panel: Green (4) ↑GTR ↑

Frequency

P/LP Variants

OT Score

CWF19L1 →

score

ClinGen: DefinitivePanel: Green (4) ↑GTR ↑

Frequency

P/LP Variants

OT Score

SNX14 →

score

ClinGen: DefinitivePanel: Green (4) ↑GTR ↑

Frequency

P/LP Variants

OT Score

SPTBN2 →

score

ClinGen: DefinitivePanel: Green (4) ↑GTR ↑

Frequency

P/LP Variants

OT Score

SYNE1 →

score

ClinGen: DefinitivePanel: Green (4) ↑GTR ↑

Frequency

P/LP Variants

OT Score

Score

Gene

Evidence

Freq

P/LP

Description

32ITPR1

DefP:G×4

ITPR1DefP:G×4

29TDP2

DefP:G×2

TDP2DefP:G×2

28CA8

ModP:G×4

CA8ModP:G×4

28KCNC3

DefP:G×4

KCNC3DefP:G×4

27ATG7

StrP:G×2

ATG7StrP:G×2

26SETX

DefP:G×4

SETXDefP:G×4

25ATXN3

P:R×4#3

Spinocerebellar tract degeneration

ATXN3P:R×4#3

Spinocerebellar tract degeneration

25WWOX

DefP:G×4

WWOXDefP:G×4

24VPS13D

LimP:G×4

VPS13DLimP:G×4

23GDAP2

StrP:G

GDAP2StrP:G

23STUB1

P:G×4

STUB1P:G×4

23FGF14

P:G×4

FGF14P:G×4

23PRKCG

P:G×4

PRKCGP:G×4

22PEX6

DefP:G×3

PEX6DefP:G×3

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

21GRM1

P:G×4

GRM1P:G×4

21TWNK

DefP:G×4

TWNKDefP:G×4

21ATXN1

P:R×4#2

Spinocerebellar tract degeneration

ATXN1P:R×4#2

Spinocerebellar tract degeneration

21PNPT1

ModP:G×3

PNPT1ModP:G×3

Consider

48 genes

Score

Gene

Evidence

Freq

P/LP

Description

19COQ8A

P:G×4

COQ8AP:G×4

19SAMD9L

DefP:G

SAMD9LDefP:G

19SCYL1

P:G×3

SCYL1P:G×3

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

17ABCB7

ModP:G×4

ABCB7ModP:G×4

17XRCC1

P:G×4

XRCC1P:G×4

16ELOVL4

DefP:G×4

ELOVL4DefP:G×4

16FAT2

P:G

FAT2P:G

16PUM1

P:G

PUM1P:G

16RNU12

ModP:R×2

RNU12ModP:R×2

15ATP2B3

P:G×4

ATP2B3P:G×4

15GRID2

P:G×4

GRID2P:G×4

15KCND3

DisP:G×4

KCND3DisP:G×4

15RAB3A

P:G×4

RAB3AP:G×4

15TMEM240

P:G×4

TMEM240P:G×4

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

13SCAN2

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

SCAN2

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

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

10ZFHX3

P:R×2

ZFHX3P:R×2

10VWA3B

Def

ANKRD11Def

9MME

DefP:R

MMEDefP:R

9NSD1

Def

NSD1Def

Possible

58 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