Genes associated with “cerebellar ataxia”

117 genes foundHPO: Cerebellar ataxia associated with quadrupedal gaitOpen Targets: cerebellar ataxia12196 ClinVar P/LP variants5 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

58 genes

ITPR1 →

inositol 1,4,5-trisphosphate receptor type 1

score

ClinGen: DefinitivePanel: Green (4) ↑GTR ↑

spinocerebellar ataxia type 29

Frequency

100%

n=7

P/LP Variants

OT Score

0.85

ATM →

ATM serine/threonine kinase

score

ClinGen: DefinitivePanel: Green (4) ↑GTR ↑

Frequency

P/LP Variants

173

OT Score

0.88

SPTBN2 →

spectrin beta, non-erythrocytic 2

score

ClinGen: DefinitivePanel: Green (4) ↑GTR ↑

Frequency

P/LP Variants

OT Score

0.84

KCNC3 →

potassium voltage-gated channel subfamily C member 3

score

ClinGen: DefinitivePanel: Green (4) ↑GTR ↑

Frequency

P/LP Variants

OT Score

0.84

DNMT1 →

DNA methyltransferase 1

score

ClinGen: DefinitivePanel: Green (3) ↑GTR ↑

Frequency

P/LP Variants

OT Score

0.81

SYNE1 →

spectrin repeat containing nuclear envelope protein 1

score

ClinGen: DefinitivePanel: Green (3) ↑GTR ↑

Frequency

P/LP Variants

OT Score

0.80

CACNA1A →

calcium voltage-gated channel subunit alpha1 A

score

Panel: Green (3) ↑GTR ↑

Frequency

P/LP Variants

OT Score

0.79

ANO10 →

anoctamin 10

score

ClinGen: DefinitivePanel: Green (3) ↑GTR ↑

Frequency

P/LP Variants

OT Score

0.79

FXN →

frataxin

score

ClinGen: DefinitivePanel: Green (3) ↑GTR ↑

Frequency

P/LP Variants

OT Score

0.85

Score

Gene

Evidence

Freq

P/LP

Description

44CAMTA1

DefP:G×3

calmodulin binding transcription activator 1

CAMTA1DefP:G×3

0.78

calmodulin binding transcription activator 1

43SNX14

DefP:G×4

sorting nexin 14

SNX14DefP:G×4

0.79

sorting nexin 14

39SETX

DefP:G×3

senataxin

SETXDefP:G×3

0.82

senataxin

37VPS13D

LimP:G×3

vacuolar protein sorting 13 homolog D

VPS13DLimP:G×3

0.80

vacuolar protein sorting 13 homolog D

36ATP8A2

DefP:G×4

cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4

ATP8A2DefP:G×4

cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4

36KCND3

DisP:G×3

potassium voltage-gated channel subfamily D member 3

KCND3DisP:G×3

0.80

potassium voltage-gated channel subfamily D member 3

36CWF19L1

DefP:G×4

CWF19 like cell cycle control factor 1

CWF19L1DefP:G×4

0.79

CWF19 like cell cycle control factor 1

36FLVCR1

DefP:G×3

FLVCR choline and heme transporter 1

FLVCR1DefP:G×3

0.79

FLVCR choline and heme transporter 1

35TWNK

DefP:G×3

twinkle mtDNA helicase

TWNKDefP:G×3

0.82

twinkle mtDNA helicase

34PRKCG

P:G×3

protein kinase C gamma

PRKCGP:G×3

0.79

protein kinase C gamma

33SPG7

P:G×3

SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CEREBELLAR ATAXIA; SPG7

SPG7P:G×3

SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CEREBELLAR ATAXIA; SPG7

33COQ8A

P:G×3

coenzyme Q8A

COQ8AP:G×3

0.84

coenzyme Q8A

32ABCB7

ModP:G×3

ATP binding cassette subfamily B member 7

ABCB7ModP:G×3

0.82

ATP binding cassette subfamily B member 7

32AFG3L2

DefP:G×3

AFG3 like matrix AAA peptidase subunit 2

AFG3L2DefP:G×3

0.83

AFG3 like matrix AAA peptidase subunit 2

32GRM1

P:G×3

glutamate metabotropic receptor 1

GRM1P:G×3

0.83

glutamate metabotropic receptor 1

32STUB1

P:G×4

STIP1 homology and U-box containing protein 1

STUB1P:G×4

0.82

STIP1 homology and U-box containing protein 1

31SCYL1

P:G×2

SCY1 like pseudokinase 1

SCYL1P:G×2

0.78

SCY1 like pseudokinase 1

31ATG7

StrP:G×2

autophagy related 7

ATG7StrP:G×2

0.77

autophagy related 7

30VLDLR

DefP:G×4

cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1

VLDLRDefP:G×4

100%

cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1

30CACNA1G

P:G×4

calcium voltage-gated channel subunit alpha1 G

CACNA1GP:G×4

0.82

calcium voltage-gated channel subunit alpha1 G

30TMEM240

P:G×3

transmembrane protein 240

TMEM240P:G×3

0.80

transmembrane protein 240

30CYP27A1

DefP:G×3

cytochrome P450 family 27 subfamily A member 1

CYP27A1DefP:G×3

0.87

cytochrome P450 family 27 subfamily A member 1

30ATCAY

P:G×3

CEREBELLAR ATAXIA, CAYMAN TYPE; ATCAY

ATCAYP:G×3

CEREBELLAR ATAXIA, CAYMAN TYPE; ATCAY

30WDR81

P:G×4

WD repeat domain 81

WDR81P:G×4

0.79

WD repeat domain 81

29CA8

ModP:G×4

cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3

CA8ModP:G×4

100%

cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3

27ATXN2

DefP:R×3

ATXN2DefP:R×3

27WWOX

DefP:G×3

WW domain containing oxidoreductase

WWOXDefP:G×3

0.80

WW domain containing oxidoreductase

23PEX6

DefP:G×2

peroxisomal biogenesis factor 6

PEX6DefP:G×2

0.81

peroxisomal biogenesis factor 6

22CC2D2A

DefP:G

coiled-coil and C2 domain containing 2A

CC2D2ADefP:G

0.87

coiled-coil and C2 domain containing 2A

22ATP1A3

DefP:G×3

ATP1A3DefP:G×3

22DARS2

DefP:G×3

DARS2DefP:G×3

22PNPLA6

DefP:G×3

PNPLA6DefP:G×3

22SCN8A

DefP:G×3

SCN8ADefP: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

21TMEM216

DefP:G

transmembrane protein 216

TMEM216DefP:G

0.80

transmembrane protein 216

21RPGRIP1L

DefP:G

RPGRIP1 like

RPGRIP1LDefP:G

0.79

RPGRIP1 like

21FGF14

P:G×3

fibroblast growth factor 14

FGF14P:G×3

0.79

fibroblast growth factor 14

21WDR73

P:G×3

WD repeat domain 73

WDR73P:G×3

0.78

WD repeat domain 73

21GRID2

P:G×3

glutamate ionotropic receptor delta type subunit 2

GRID2P:G×3

0.78

glutamate ionotropic receptor delta type subunit 2

21TGM6

P:G×3

transglutaminase 6

TGM6P:G×3

0.78

transglutaminase 6

21TMEM237

DefP:G

transmembrane protein 237

TMEM237DefP:G

0.77

transmembrane protein 237

20TMEM138

ModP:G

transmembrane protein 138

TMEM138ModP:G

0.81

transmembrane protein 138

20SAMD9L

Def

sterile alpha motif domain containing 9 like

SAMD9LDef

0.81

sterile alpha motif domain containing 9 like

20ADGRG1

DefP:G×3

ADGRG1DefP:G×3

20RFC1

Def

RFC1Def

20SIL1

DefP:G×3

SIL1DefP:G×3

Consider

30 genes

Score

Gene

Evidence

Freq

P/LP

Description

18KIAA0586

P:G

KIAA0586

KIAA0586P:G

0.78

KIAA0586

17OPA1

DefP:G×2

OPA1DefP:G×2

17VPS41

P:G×2

VPS41P:G×2

15RNF216

P:G×3

RNF216P:G×3

15FMR1

DefP:R×3

FMR1DefP:R×3

15MSTO1

DefP:G×2

MSTO1DefP:G×2

15CPLANE1

Def

ciliogenesis and planar polarity effector complex subunit 1

CPLANE1Def

0.77

ciliogenesis and planar polarity effector complex subunit 1

13ADCADN

CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT; ADCADN

ADCADN

CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT; ADCADN

13ATP2B3

P:G×3

ATP2B3P:G×3

13CABAC

CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC

CABAC

CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC

13CAMRQ2

CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2

CAMRQ2

CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2

13CANVAS

CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME; CANVAS

CANVAS

CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME; CANVAS

13CCAFCA

CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA; CCAFCA

CCAFCA

CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA; CCAFCA

13CHCHD10

Def

CHCHD10Def

13CLCN2

RefP:G×3

CLCN2RefP:G×3

13CONDCAC

NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE; CONDCAC

CONDCAC

NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE; CONDCAC

13IFT140

Def

IFT140Def

13SCA36

SPINOCEREBELLAR ATAXIA 36; SCA36

SCA36

SPINOCEREBELLAR ATAXIA 36; SCA36

13SCA44

SPINOCEREBELLAR ATAXIA 44; SCA44

SCA44

SPINOCEREBELLAR ATAXIA 44; SCA44

13SCAR8

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; SCAR8

SCAR8

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; SCAR8

13SPG91

SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA; SPG91

SPG91

SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA; SPG91

13TDP1

P:R×3

TDP1P:R×3

13VAFCAS

VALENCE-FARAZI CEREBELLAR ATAXIA SYNDROME; VAFCAS

VAFCAS

VALENCE-FARAZI CEREBELLAR ATAXIA SYNDROME; VAFCAS

12PUM1

pumilio RNA binding family member 1

PUM1

0.78

pumilio RNA binding family member 1

10ATXN3

P:R×3

ATXN3P:R×3

10ATXN7

P:R×3

ATXN7P:R×3

10C11ORF65

C11ORF65

10FRMD4A

P:R×3

FRMD4AP:R×3

9ANKRD17

Def

ANKRD17Def

8SKOR2

SKOR2

Possible

29 genes — click to expand

Score

Gene

Evidence

Freq

P/LP

Description

7MT-ATP6

Def

MT-ATP6Def

7NDUFS7

Def

NDUFS7Def

6JMJD8

JMJD8

5ADAMTS9

Lim

ADAMTS9Lim

5CAMRQ1

CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 1; CAMRQ1

CAMRQ1

CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 1; CAMRQ1

5CAMRQ4

CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 4; CAMRQ4

CAMRQ4

CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 4; CAMRQ4

5EA2

EPISODIC ATAXIA, TYPE 2; EA2

EA2

EPISODIC ATAXIA, TYPE 2; EA2

5PRICKLE2

Lim

PRICKLE2Lim

5SCA29

SPINOCEREBELLAR ATAXIA 29; SCA29

SCA29

SPINOCEREBELLAR ATAXIA 29; SCA29

5SCAR34

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 34; SCAR34

SCAR34

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 34; SCAR34

5SPG46

SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE; SPG46

SPG46

SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE; SPG46

5UNC13A

Lim

UNC13ALim