Genes associated with “ataxia”

Diagnostic yield calculator →
483 genes foundHPO: AtaxiaOpen Targets: 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

69 genes
1
CACNA1A →

calcium voltage-gated channel subunit alpha1 A

54
score
Panel: Green (4) ↑P2G #2GTR ↑

Dysmetria

Frequency
20%
n=5
P/LP Variants
3
OT Score
0.44
2
EBF3 →

EBF transcription factor 3

53
score
ClinGen: DefinitivePanel: Green (3) ↑GTR ↑
Frequency
-
P/LP Variants
5
OT Score
0.43
3
50
score
ClinGen: DefinitivePanel: Green (5) ↑P2G #32GTR ↑
Frequency
-
P/LP Variants
18
OT Score
-
4
45
score
ClinGen: DefinitivePanel: Green (4) ↑GTR ↑

Truncal ataxia

Frequency
100%
n=4
P/LP Variants
3
OT Score
-
5
43
score
ClinGen: DefinitivePanel: Green (4) ↑P2G #27GTR ↑

Cerebellar ataxia associated with quadrupedal gait

Frequency
100%
n=7
P/LP Variants
2
OT Score
-
6
41
score
ClinGen: DefinitivePanel: Green (4) ↑GTR ↑

Truncal ataxia

Frequency
100%
n=4
P/LP Variants
1
OT Score
-
7
SETX →

senataxin

38
score
ClinGen: DefinitivePanel: Green (4) ↑GTR ↑
Frequency
-
P/LP Variants
5
OT Score
0.33
8
37
score
ClinGen: DefinitivePanel: Green (4) ↑GTR ↑

Gait ataxia

Frequency
100%
n=2
P/LP Variants
1
OT Score
-
9
37
score
ClinGen: DefinitivePanel: Green (4) ↑P2G #26GTR ↑

Ataxia

Frequency
50%
n=2
P/LP Variants
3
OT Score
-
37UBE3A
Def#13

Ataxia

36CAMTA1
DefP:G×4
35GRID2
P:G×4

Dysdiadochokinesis

35KCNA1
DefP:G×4

Episodic ataxia

35SPG7
DefP:G×4

SPG7 matrix AAA peptidase subunit, paraplegin

33SPTBN2
DefP:G×4

Gait ataxia

33SLC1A3
DefP:G×4

Truncal ataxia

32SYNE1
DefP:G×4
30CWF19L1
DefP:G×4
30MVK
DefP:G×4

Ataxia

30SCN8A
DefP:G×4
29NPC1
DefP:G×4
29ANO10
DefP:G×4

Limb ataxia

28NPC2
DefP:G×4

Ataxia

28GFAP
DefP:G×4
28SNX14
DefP:G×4
28TDP2
DefP:G×2

Ataxia

27FA2H
DefP:G×2

Ataxia

27RFC1
DefP:R

Limb ataxia

27ASL
DefP:G×2#10

argininosuccinate lyase

26CACNA1G
DefP:G×4

Dysmetria

26OPA1
DefP:G×3

Dysmetria

26SCN1A
DefP:G×3
25DARS2
DefP:G×4

Ataxia

25TUBB4A
DefP:G×4

tubulin beta 4A class IVa

25ATG7
StrP:G×2

autophagy related 7

24KCNJ10
DefP:G×4
24PLP1
Def#15

Ataxia

24SQSTM1
ModP:G×3

Ataxia

23FGF14
P:G×4

Limb ataxia

23PRPS1
DefP:A#7
23PDHA1
Def#9
23ACO2
DefP:G×2

Ataxia

23VPS41
P:G×3

VPS41 subunit of HOPS complex

23TTBK2
P:G×4

Gait ataxia

22ELOVL4
DefP:G×4

Limb ataxia

22MECP2
Def
22ADGRG1
DefP:G×3
22EIF2B5
DefP:G×4
22SLC9A6
DefP:G×4
22STUB1
P:G×4

Ataxia

22PRKCG
P:G×4

Dysmetria

22SURF1
Def#17
21CA8
ModP:G×4

Ataxia

21PLA2G6
DefP:G×4
21RPGRIP1L
DefP:G#12

Ataxia

21TPP1
DefP:G×4
21DLG4
DefP:G×2
21IRF2BPL
DefP:G×3

Dysmetria

21LAMA1
P:G×2
21POLR3A
DefP:G×4

Dysmetria

21POLR3B
DefP:G×2
21PMM2
DefP:G

Dysmetria

21AHDC1
Def

Ataxia

21PI4KA
P:G×3

Ataxia

20OFD1
DefP:G

Dysmetria

20OPA3
ModP:G×4
20DLD
Def
20SLC17A5
DefP:G×2

Ataxia

20GDAP2
StrP:G

Gait ataxia

Consider

144 genes
20AHI1
DefP:G

Ataxia

20TDP1
P:G×4

Ataxia

20UCHL1
DefP:G×4

Ataxia

20PRICKLE1
LimP:R×4

Ataxia

19PNKP
DefP:G×4

Ataxia

19CEP41
DefP:G#8

Ataxia

19PHGDH
DefP:A×2
19WWOX
DefP:G×4
19COQ8A
P:G×4

coenzyme Q8A

19NEU1
DefP:G×3

neuraminidase 1

19LIG3
DefP:A×2

Dysmetria

19GCH1
Def

Dysdiadochokinesis

18ATP1A3
DefP:G×4
18EIF2B1
DefP:G×4
18EPM2A
DefP:G×4
18KIF1C
P:G×4
18SPG11
Def
17PMPCA
DefP:G×4

Limb ataxia

17ADPRS

Ataxia

17GRM1
P:G×4

Ataxia

16CTBP1
P:G×2

Ataxia

16NUS1
DefP:G×3

Ataxia

16UBA5
DefP:G

Gait ataxia

16GPAA1
DefP:G×4

Dysmetria

16CAPRIN1
ModP:A×2
16COA7
DefP:G×3
16EIF2B3
DefP:G×4
16EIF2B4
DefP:G×4
16GJC2
DefP:G×4
16MARS2
DefP:G×4
16MFSD8
DefP:G×3
16MTPAP
DefP:A×4
16NHLRC1
DefP:G×4
16SLC52A2
DefP:G×3
16SPTAN1
DefP:G×3
16THG1L
LimP:G×3

Gait ataxia

16DAGLA
P:G×3

diacylglycerol lipase alpha

16COX10
Def#6

Ataxia

16CEP104
DefP:G

Ataxia

16CLN6
DefP:G×4

Ataxia

15RAB3A
P:G×4
15RNU12
ModP:R×2

Gait ataxia

15CNOT1
Def
15NFIX
Def
15PNPT1
ModP:G×3
15STXBP1
Def
15SYNGAP1
DefP:G
15ABCD1
Def#11

Limb ataxia

15FEM1C
LimP:G×2

fem-1 homolog C

14NOP56
P:R×4

Limb ataxia

14DOCK3
P:G×2
14ATXN3
P:R×4

Progressive cerebellar ataxia

14SLC19A3
Def
14ELOVL5
P:A×4

Limb ataxia

14MAN2B1
Def

Limb ataxia

14VPS13D
LimP:G×4
14WDR81
P:G×4

Truncal ataxia

14COQ4
DefP:G×3

Ataxia

14ABCB7
ModP:G×4

Dysmetria

14SNRPN

Ataxia

14ATXN1
P:R×4

Truncal ataxia

14RNF220
P:G×2

ring finger protein 220

14CACNA2D2
ModP:G

calcium voltage-gated channel auxiliary subunit alpha2delta 2

14EXOSC5
P:G×2

exosome component 5

13XPA
Def

Ataxia

13ATP2B3
P:G×4
13CACNA1C
Def
13CMTX4

CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA; CMTX4

13EA1

EPISODIC ATAXIA, TYPE 1; EA1

13FMR1
DefP:R×4

Dysdiadochokinesis

13MFN2
DefP:G
13MLC1
Def
13MMAA
Def
13MMAB
Def
13MRE11
RefP:G×4
13NBN
Def
13SCA1

SPINOCEREBELLAR ATAXIA 1; SCA1

13SCA7

SPINOCEREBELLAR ATAXIA 7; SCA7

13SCAX1

SPINOCEREBELLAR ATAXIA, X-LINKED 1; SCAX1

13SCAX5

Spinocerebellar ataxia, X-linked 5

13SCAX6

SPINOCEREBELLAR ATAXIA, X-LINKED 6, WITH OR WITHOUT SIDEROBLASTIC ANEMIA; SCAX6

13SCYL1
P:G×3
13SLC25A15
Def
13TANGO2
P:G×2

Gait ataxia

13WDR62
Def
13XRCC1
P:G×4
13SAMD9L
DefP:G

Dysmetria

13PIBF1
P:G

progesterone immunomodulatory binding factor 1

12SDHA
Def

Truncal ataxia

12KIF1A
DefP:G×2

Ataxia

12PIGS
DefP:G

Ataxia

12SKOR2
P:A×2

SKI family transcriptional corepressor 2

12ABCA2
P:A×2
12MTFMT
DefP:G×2

Ataxia

12MSTO1
DefP:G×3

Dysmetria

12NARS1
Mod
12PNPLA6
DefP:G×4

Ataxia

12POU4F1
P:G×2
12PNP
Def

Ataxia

12NDUFAF6
Def

Ataxia

11CHP1
P:A×4

Dysmetria

11MKS1
DefP:G

Ataxia

11PIK3R5
DisP:R×4

Dysmetria

11SLC44A1
P:G×2

Progressive cerebellar ataxia

11BBS1
DefP:G×2

Ataxia

11CSNK2B
Def
11GRIN2A
Def
11VWA3B

Dysmetria

11FTH1
ModP:G×2

Dysmetria

11PITRM1
P:G×2

Dysmetria

10ATXN7
P:R×4

Progressive cerebellar ataxia

10PPP2R1A
Def

Gait ataxia

10CTDP1
10KCNN2
P:G×2

Ataxia

10C11ORF65
10PUM1
P:G
10SLC6A1
10TBR1
Def

T-box brain transcription factor 1

10ADSL
Def

Gait ataxia

10KARS1
Lim

Ataxia

10AP2M1
Def

adaptor related protein complex 2 subunit mu 1

10GRIN2B
Def

glutamate ionotropic receptor NMDA type subunit 2B

10NAA60
P:G

Ataxia

10CHMP1A
P:G×4

Gait ataxia

10ATP1A2
DefP:G

Gait ataxia

9SLC39A4
Def

Ataxia

9ERCC5
Def
9KMT2B
Def
9LYST
Def
9MMUT
Def
9ALG6
DefP:G

Ataxia

9DPM1
DefP:G

Ataxia

9EEF2
P:A×4

Truncal ataxia

9KCND3
DisP:G×4

Truncal ataxia

9TBC1D23
P:G×3

Limb ataxia

9VAMP1
P:A×4

Spastic ataxia

9ZFHX3
P:R×2

Limb dysmetria

9CAPN1
P:G

Limb ataxia

9NDUFS2
Def

Ataxia

9MME
DefP:R

Ataxia

9SOX9
Def

SRY-box transcription factor 9

8MT-ATP6
Def

mitochondrially encoded ATP synthase membrane subunit 6

8GRIK2
Def

glutamate ionotropic receptor kainate type subunit 2

8SNHG14

Possible

247 genes — click to expand
8POLR1C
Def

Ataxia

8NEMF
Str

nuclear export mediator factor

7MT-ND4
Def

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4

7DYRK1A
Def

Ataxia

7CLPB
Lim
7MT-ND3
Def

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3

7ADA2
Def
7ESPN
Def
7GABRB3
Def
7GAN
Def
7GRIA2
Def
7MAGEL2
Def
7MT-ND5
Def

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5

7MTHFR
Def
7MTOR
Def
7NMNAT1
Def
7NPHP4
Def
7OCA2
Def
7PARK7
Def
7PEX1
Def
7PEX14
Def
7PIK3CD
Def
7PLEKHG5
Def
7POLH
Def
7RERE
Def
7TARDBP
Def
7TNFRSF9
Def
7TPP2
Def
7TRAPPC11
DefP:A

Ataxia

7XPC
Def
7MT-CO2
Def

mitochondrially encoded cytochrome c oxidase II

7MT-CO3
Def

mitochondrially encoded cytochrome c oxidase III

7PRX
Def

periaxin

7CAMK4

calcium/calmodulin dependent protein kinase IV

7CLN8
Def

Ataxia

7L2HGDH
Def

Ataxia

7NF2
DefSF

Ataxia

6HARS1
Ref

histidyl-tRNA synthetase 1

6BIVM-ERCC5
6MTAP
Mod

methylthioadenosine phosphorylase

6CHCHD10
Def

Ataxia

6CLCN6
Mod
6PRDM16
Str
6TP73
Str
6CBS
Def

Ataxia

6BCL11A
Def

Truncal ataxia

5MCM3AP
Def

Ataxia

5RPL10
Def

Gait ataxia

5SPART
Def

Dysmetria

5WARS2
Def

Ataxia

5MT-ATP8
Lim

mitochondrially encoded ATP synthase membrane subunit 8

5ATXPC

ATAXIA-PANCYTOPENIA SYNDROME; ATXPC

5CAMRQ1

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

5CASZ1
Lim
5EA2

EPISODIC ATAXIA, TYPE 2; EA2

5FXTAS

FRAGILE X TREMOR/ATAXIA SYNDROME; FXTAS

5KIF1B
Lim
5PMP22
Def

Gait ataxia

5SCAN2

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

5SCAR34

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 34; SCAR34

5SPAX7

SPASTIC ATAXIA 7, AUTOSOMAL DOMINANT; SPAX7

5MT-ND4L
Lim

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L

5POLDIP3

DNA polymerase delta interacting protein 3

5CAV1
Def

Dysdiadochokinesis

5CTSA
Def

Gait ataxia

5ERBB4
Lim

erb-b2 receptor tyrosine kinase 4

5HIBCH
Def

Truncal ataxia

5MMADHC
Def

Spastic ataxia

5PNPLA8
Def

Dysmetria

5TRIM8
Def

Ataxia

4LRP4
Def

Spastic ataxia

4OGDH
Def

Dysmetria

4SLC7A6OS

Ataxia

4KRABD3

KRAB domain containing 3

4AADACL3
4AADACL4
4ABHD18
4ACOT7
4ACTRT2
4AGTRAP
4AJAP1
4ANGPTL7
4ARHGEF16
4ATP10A
4ATP10A-DT
4C1ORF167
4C1ORF174
4CA6
4CAMTA1-DT
4CAMTA1-IT1
4CCDC27
4CDK19
4CENPS
4CENPS-CORT
4CFAP107
4CHD5
4CIROZ
4CLSTN1
4CTNNBIP1
4CYFIP1
4DENND5A
4DHRS3
4DISP3
4DNAJC11
4DRAXIN
4ENO1
4EPM2A-DT
4ERRFI1
4ERRFI1-DT
4EXOSC10
4FBXO2
4FBXO44
4FBXO6
4GABRA5
4GABRG3
4GOLGA6L1
4GOLGA6L2
4GOLGA6L26
4GOLGA8S
4GPR153
4GPR157
4H6PD
4HERC2
4HES2
4HES3
4HES5
4HNRNPCL1
4HNRNPCL2
4HNRNPCL3
4HNRNPCL4
4ICE2
4ICMT-DT
4ITGBL1
4KCNAB2
4KIAA2013
4KLHL21
4LNCTAM34A
4LRRC38
4LRRC47
4LRTM3
4MAD2L2
4MASP2
4MEGF6
4METTL21C
4MFSD2A
4MKRN3
4MMEL1
4NALCN
4NIPA1
4NIPA2
4NOL9
4NPAP1
4NPPA
No
4PANK4
4PER3
4PHF13
4PLCH2
4PLK4
4PLOD1
4POGLUT2
4PRAMEF1
4PRAMEF10
4PRAMEF11
4PRAMEF12
4PRAMEF13
4PRAMEF14
4PRAMEF15
4PRAMEF17
4PRAMEF18
4PRAMEF19
4PRAMEF2
4PRAMEF20
4PRAMEF25
4PRAMEF26
4PRAMEF27
4PRAMEF33
4PRAMEF4
4PRAMEF5
4PRAMEF6
4PRAMEF7
4PRAMEF8
4PRAMEF9
4PRDM16-DT
4PRDM2
4PRXL2B
4PWAR1
4PWAR4
4PWAR5
4PWAR6
4PWARSN
4PWRN1
4PWRN2
4PWRN3
4PWRN4
4RBP7
4RNF207
4RNU5E-1
4RPL22
4SLC10A2
4SLC25A33
4SLC2A5
4SLC2A7
4SLC45A1
4SMIM1
4SNORA59A
4SNURF
4SPSB1
4TAS1R1
4TEX30
4THAP3
4TMEM201
4TNFRSF14
4TNFRSF1B
4TNFRSF25
4TNFRSF8
4TPRG1L
4TRE-TTC2-2
4TTC34
4TUBGCP5
4UBE4B
4UBIAD1
4UTS2
4VAMP3
4WRAP73
4ZBTB48
4HNRNPH2
Def

Ataxia

4HSP90B1

heat shock protein 90 beta family member 1

4HNRNPH1
Def

Ataxia

4NEDD4L
Def

Ataxia

4TBX15

T-box transcription factor 15

4YME1L1
Lim

Dysmetria

4LRPPRC
Def

Truncal ataxia

4HPDL
Mod

Gait ataxia

3XRCC4
Lim

Ataxia

3DNAJA2

DnaJ heat shock protein family (Hsp40) member A2

3GABBR2
Mod

Ataxia

3CD5L

CD5 molecule like

3MIMS2

mitochondrial inner membrane scaffold 2

3BRCA1
DefSF

Ataxia

3C19ORF12
Def

Ataxia

3CTC1
Def

Ataxia

3ETHE1
Def

Ataxia

3HEPACAM
Def

Ataxia

3KIF5A
Def

Ataxia

3RNF168
Def

Ataxia

3ROGDI
Def

Ataxia

3SLC6A19
Def

Episodic ataxia

Related phenotype searches

Intellectual disabilityGlobal developmental delaySpeech/language delayNeurodegenerationDevelopmental regressionSeizuresEpileptic encephalopathyStatus epilepticus

Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.