Genes associated with “ataxia”

610 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

49 genes
1
66
score
ClinGen: DefinitivePanel: Green (5) ↑P2G #32GTR ↑

Ataxia

Frequency
100%
n=104
P/LP Variants
18
OT Score
-
2
CACNA1A →

calcium voltage-gated channel subunit alpha1 A

53
score
Panel: Green (4) ↑P2G #2GTR ↑

Ataxia

Frequency
-
P/LP Variants
4
OT Score
0.34
3
EBF3 →

EBF transcription factor 3

51
score
ClinGen: DefinitivePanel: Green (3) ↑GTR ↑
Frequency
-
P/LP Variants
3
OT Score
0.43
4
SETX →

senataxin

44
score
ClinGen: DefinitivePanel: Green (4) ↑GTR ↑

Gait ataxia

Frequency
82%
n=28
P/LP Variants
3
OT Score
0.33
5
39
score
ClinGen: DefinitivePanel: Green (4) ↑GTR ↑
Frequency
-
P/LP Variants
2
OT Score
-
6
36
score
ClinGen: DefinitivePanel: Green (4) ↑GTR ↑
Frequency
-
P/LP Variants
1
OT Score
-
7
34
score
ClinGen: DefinitivePanel: Green (4) ↑GTR ↑
Frequency
-
P/LP Variants
7
OT Score
-
8
34
score
ClinGen: DefinitivePanel: Green (4) ↑GTR ↑
Frequency
-
P/LP Variants
1
OT Score
-
9
34
score
ClinGen: DefinitivePanel: Green (4) ↑GTR ↑
Frequency
-
P/LP Variants
1
OT Score
-
32FXN
DefP:G×4

Limb ataxia

32ATXN2
DefP:R×4

Ataxia

31DAGLA
P:G×3

diacylglycerol lipase alpha

31SPTAN1
DefP:G×3

Ataxia

31SPTBN2
DefP:G×4

Dysmetria

30ITPR1
DefP:G×4

Limb dysmetria

30NPC1
DefP:G×4

Ataxia

30KCNC3
DefP:G×4

Limb dysmetria

29SLC2A1
DefP:G×4

Ataxia

29SPG7
P:G×4

SPG7 matrix AAA peptidase subunit, paraplegin

28RFC1
DefP:R

Gait ataxia

27TUBB4A
DefP:G×4

tubulin beta 4A class IVa

27KCNJ10
DefP:G×4

Ataxia

27ASL
DefP:G×2#10

argininosuccinate lyase

26ADGRG1
DefP:G×3

Truncal ataxia

26MVK
DefP:G×4
26NPC2
DefP:G×4
26CWF19L1
DefP:G×4

Ataxia

25ATG7
StrP:G×2

autophagy related 7

24PRPS1
DefP:A#7

Ataxia

24DARS2
DefP:G×4

aspartyl-tRNA synthetase 2, mitochondrial

24WWOX
DefP:G×4

Ataxia

23PDHA1
Def#9
23ACO2
DefP:G×2

Ataxia

23MECP2
Def

Ataxia

23PLP1
Def#15
22GFAP
DefP:G×4
22EIF2B5
DefP:G×4
22ACBD6
P:G×2

Ataxia

22POLG
LimP:G×4

Progressive gait ataxia

22GRM1
P:G×4

Dysdiadochokinesis

21TPP1
DefP:G×4

Ataxia

21PNPLA6
DefP:G×4

Dysdiadochokinesis

21POLR3B
DefP:G×2

Ataxia

21UBE3A
Def#13
21VPS41
P:G×3

VPS41 subunit of HOPS complex

20OFD1
DefP:G

Dysmetria

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

Ataxia

Consider

158 genes
20TMEM67
DefP:G#16

Ataxia

20PRICKLE1
LimP:R×4

Dysmetria

20FA2H
DefP:G×2

Ataxia

19DLG4
DefP:G×2
19SLC9A1
ModP:G×3

Limb ataxia

19PHGDH
DefP:A×2
19PMM2
DefP:G
19COQ8A
P:G×4

coenzyme Q8A

19OPA1
DefP:G×3

Dysmetria

19SURF1
Def#17
19CAPRIN1
ModP:A×2

Ataxia

18EIF2B1
DefP:G×4
18TINF2
DefP:G×3

Ataxia

18SLC9A6
DefP:G×4
18SPG11
Def
17LIG3
DefP:A×2

DNA ligase 3

17SIL1
DefP:G×4

Gait ataxia

17COA7
DefP:G×3

Gait ataxia

17DKC1
DefP:G×2

Ataxia

17FMR1
DefP:R×4
17POLR3A
DefP:G×4

Ataxia

17PRKCG
P:G×4

Dysmetria

17ABCB7
ModP:G×4

Nonprogressive cerebellar ataxia

16UBA5
DefP:G

Limb ataxia

16VPS13D
LimP:G×4
16DNAJC19
DefP:G×4

Ataxia

16APOB
DefSF

Ataxia

16ATP1A3
DefP:G×4
16EIF2B3
DefP:G×4
16EIF2B4
DefP:G×4
16GBA2
DefP:G×4
16GJC2
DefP:G×4
16MARS2
DefP:G×4
16MFSD8
DefP:G×3
16PEX6
DefP:G×3
16PNKP
DefP:G×4
16SCN8A
DefP:G×4
16SQSTM1
ModP:G×3

Dysdiadochokinesis

16TDP1
P:G×4
16ATXN10
P:R×4

Dysdiadochokinesis

16GCH1
Def

GTP cyclohydrolase 1

16CLN6
DefP:G×4

Ataxia

15NEU1
DefP:G×3

neuraminidase 1

15ATXN7
P:R×4

Progressive cerebellar ataxia

15ATP1A2
DefP:G
15FGF14
P:G×4
15RAB3A
P:G×4
15AHDC1
Def
15LAMA1
P:G×2
15THG1L
LimP:G×3
15PIBF1
ModP:G

progesterone immunomodulatory binding factor 1

15PITRM1
P:G×2

pitrilysin metallopeptidase 1

15UCHL1
DefP:G×4

Ataxia

15EXOSC5
P:G×2

Ataxia

15CACNA2D2
ModP:G

Gait ataxia

14KCNC1
Def

Ataxia

14SUFU
DefP:G×2

Ataxia

14SLC16A2
Def#19

Ataxia

14DOCK3
P:G×2
14CNOT1
Def
14NFIX
Def
14ATXN3
P:R×4

Progressive cerebellar ataxia

14TBC1D24
Def

Limb ataxia

14ELOVL5
P:A×4

Ataxia

14MAN2B1
Def

Gait ataxia

14PUM1
P:G
14PPP2R2B
P:R×4

Dysmetria

14SNRPN

Ataxia

14TWNK
DefP:G×4

Gait ataxia

14RNF220
P:G×2

ring finger protein 220

14FEM1C
P:G×2

fem-1 homolog C

13AP2M1
Def

Gait ataxia

13CTSD
Def

Ataxia

13CHCHD10
Def
13EA1

EPISODIC ATAXIA, TYPE 1; EA1

13ERCC4
DefP:G
13EXOSC3
P:G×4
13GNE
DefP:G
13IFT74
DefP:G
13MLC1
Def
13MMAA
Def
13MMAB
Def
13NBN
Def
13PI4KA
P:G×3
13PIGO
DefP:G
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

13SLC25A15
Def
13STXBP1
Def
13WDR81
P:G×4
13ADPRS

Ataxia

13SAMD9L
DefP:G

Ataxia

13MORC2
DefP:G×3

Ataxia

13TTC19
DefP:G×4

Dysmetria

13NDUFS1
Def

Ataxia

13COX6B1
Def

Ataxia

13SNAP25
DefP:G×2

Ataxia

12TTR
DefSF

Ataxia

12SKOR2
P:A×2

SKI family transcriptional corepressor 2

12ABCA2
P:A×2
12ZSWIM6
DefP:G

Ataxia

12XPA
Def
12CTBP1
P:G×2
12IRF2BPL
DefP:G×3

Dysmetria

12PLA2G6
DefP:G×4

Dysmetria

12TANGO2
P:G×2
12TUBA1A
DefP:G×3

Ataxia

12SDHA
Def

Truncal ataxia

12ATP6V0A1
P:G×2

Ataxia

11CHP1
P:A×4

Dysmetria

11POU4F1
P:G×2

Ataxia

11WDR45
Def
11MTAP
Mod

methylthioadenosine phosphorylase

11CSNK2B
Def
11GRIN2A
Def
11KIF1A
DefP:G×2

Ataxia

11WDR62
Def
11COG8
DefP:G

Dysmetria

11XRCC1
P:G×4

Dysmetria

11AUH
DefP:G

Ataxia

10HARS1
Ref

Truncal ataxia

10MRE11
RefP:G×4

Gait ataxia

10SUMF1
Def

Ataxia

10B4GALT1
P:G
10C11ORF65
10VWA3B
10TBR1
Def

T-box brain transcription factor 1

10KARS1
Lim

Ataxia

10SMAD4
DefSF

Ataxia

10GRIN2B
Def

glutamate ionotropic receptor NMDA type subunit 2B

10SLC6A1

Ataxia

10PTPMT1
P:A×2

Ataxia

10PMPCB
P:G×3

Dysmetria

10EEFSEC
P:G×2

Episodic ataxia

10ERCC2
Def

Ataxia

9ADA2
Def
9ARX
Def
9CDKN2A
Def
9COG4
DefP:G

Ataxia

9NFASC
P:G×3

Ataxia

9TBC1D23
P:G×3

Ataxia

9TMEM240
P:G×4

Progressive cerebellar ataxia

9VHL
DefSF
9HACE1
9NDUFS2
Def

Ataxia

9PRKACG
Dis
9BTD
DefSF

Ataxia

8SOX9
Def

SRY-box transcription factor 9

8NARS1
Mod
8RRM2B

Ataxia

8GRIK2
Def

glutamate ionotropic receptor kainate type subunit 2

8MT-ATP6
Def

mitochondrially encoded ATP synthase membrane subunit 6

8RAB9B
8SNHG14
8ZFHX3
P:R×2

Possible

377 genes — click to expand
8NEMF
Str

nuclear export mediator factor

7MT-ND4
Def

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4

7CLPB
Lim
7C9ORF72
Def
7DMRT1
Def
7DNAI1
Def
7DOCK8
Def
7EPG5
Def
7ERCC5
Def
7FANCG
Def
7GABRB3
Def
7GAN
Def
7GLDC
Def
7GRIA2
Def
7IL11RA
Def
7KCNV2
Def
7LYST
Def
7MAGEL2
Def
7MOCS1
Def
7MT-CO2
Def

mitochondrially encoded cytochrome c oxidase II

7MT-ND5
Def

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5

7NFIB
Def
7OCA2
Def
7PAX5
Def
7PEX1
Def
7PEX5
Def
7RFX3
Def
7RMRP
Def
7SMARCA2
Def
7TEK
Def
7TOPORS
Def
7TPM2
Def
7TPP2
Def
7TRAPPC11
DefP:A

Ataxia

7TRPM3
Def
7VCP
Def
7XPC
Def
7MT-CO3
Def

mitochondrially encoded cytochrome c oxidase III

7MT-ND3
Def

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3

7PRX
Def

periaxin

7CAMK4

calcium/calmodulin dependent protein kinase IV

6APOB3'MAR
6RUSC2
Mod
6PPP2R5D
Def

Gait ataxia

6BCL11A
Def

Limb ataxia

6NMNAT1
Def

Ataxia

5MCM3AP
Def

Ataxia

5SARS1
Lim

Ataxia

5MT-ATP8
Lim

mitochondrially encoded ATP synthase membrane subunit 8

5ADAMTS9
Lim
5ATXPC

ATAXIA-PANCYTOPENIA SYNDROME; ATXPC

5CAMRQ1

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

5EA2

EPISODIC ATAXIA, TYPE 2; EA2

5FXTAS

FRAGILE X TREMOR/ATAXIA SYNDROME; FXTAS

5HTT
DefP:R

Gait ataxia

5PRICKLE2
Lim
5SCAN2

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

5SCAR34

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 34; SCAR34

5SLC1A1
Lim
5SPAX7

SPASTIC ATAXIA 7, AUTOSOMAL DOMINANT; SPAX7

5TJP2
Lim
5MT-ND4L
Lim

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L

5POLDIP3

DNA polymerase delta interacting protein 3

5SATB1
Def

Ataxia

5ERBB4
Lim

erb-b2 receptor tyrosine kinase 4

5ACBD5
Def

Dysmetria

5RARS1
Def

Ataxia

5TRIM8
Def

Ataxia

4ATG5
Lim

Ataxia

4SLC4A10
Str

Ataxia

4COA8
Def

Ataxia

4TRAPPC6B
Def

Gait ataxia

4KRABD3

KRAB domain containing 3

4EEF1A2
Def

Ataxia

4FGF12
Def

Ataxia

4HSP90B1

heat shock protein 90 beta family member 1

4ABHD17B
4ABHD18
4ACER2
4ACO1
4ADAMTSL1
4AK3
4ALDH1B1
4ANKRD18A
4ANKRD18B
4ANKRD20A1
4ANKRD20A4-ANKRD20A20P
4APBA1
4AQP3
4AQP7
4ARHGEF39
4ARID3C
4ATOSB
4ATP10A
4ATP10A-DT
4BAG1
4BANCR
4BIVM-ERCC5
4BNC2
4BRD10
4C9ORF57
4C9ORF85
4CA9
4CAAP1
4CADPS
4CCDC107
4CCDC171
4CCL19
4CCL21
4CCL27
4CD274
4CD72
4CDC37L1
4CDC37L1-DT
4CDK19
4CDKN2B
4CEMIP2
4CEP15
4CER1
4CFAP95
4CFAP95-DT
4CHMP5
4CIMIP2B
4CNTFR
4CNTLN
4CNTNAP3
4CNTNAP3B
4CNTNAP3C
4CREB3
4CYFIP1
4DCAF10
4DCAF12
4DCTN3
4DENND4C
4DENND5A
4DMAC1
4DMRT2
4DMRT3
4DMRTA1
4DNAJA1
4DNAJB5
4DNAJB5-DT
4ELAVL2
4ENTREP1
4ERMP1
4ERVFRD-3
4FAM201A
4FAM219A
4FAM221B
4FAM240B
4FAM242D
4FAM242E
4FAM242F
4FAM27B
4FAM27C
4FAM27E2
4FAM27E3
4FAM27E4
4FAM74A1
4FAM74A3
4FAM74A4
4FAM74A6
4FAM74A7
4FAM88B
4FAM88C
4FAM88D
4FAM88E
4FAM88F
4FAM95B1
4FAM95C
4FBXO10
4FEZF2
4FOCAD
4FOXD4L3
4FOXD4L4
4FOXD4L5
4FOXD4L6
4FREM1
4FRMPD1
4GABRA5
4GABRG3
4GLIDR
4GLIPR2
4GLIS3
4GOLGA6L1
4GOLGA6L2
4GOLGA6L26
4GOLGA8S
4GRHPR
4HACD4
4HAUS6
4HERC2
4HINT2
4HRCT1
4ICE2
4IFNA1
4IFNA10
4IFNA13
4IFNA14
4IFNA16
4IFNA17
4IFNA2
4IFNA21
4IFNA4
4IFNA5
4IFNA6
4IFNA7
4IFNA8
4IFNB1
4IFNW1
4IGFBPL1
4IL33
4INCR1
4INSL4
4INSL6
4ITGBL1
4IZUMO3
4JAK2
4KANK1
4KBTBD8
4KDM4C
4KIF24
4KLF9
4KLF9-DT
4KLHL9
4LERFS
4LINC-ADAIN
4LINGO2
4LRIG1
4LRRC19
4LRTM3
4LURAP1L
4MAGI1
4MAHAC
4MAMDC2
4METTL21C
4MFSD2A
4MKRN3
4MLANA
4MLLT3
4MOB3B
4MYORG
4NALCN
4NDUFB6
4NFX1
4NIPA1
4NIPA2
4NOL6
4NPAP1
4NPR2
4NUDT2
4OR13J1
4OR2S2
4PABIR1
4PDCD1LG2
4PGM5
4PHF24
4PIP5K1B
4PIRC43
4PLGRKT
4PLIN2
4PLK4
4PLPP6
4POGLUT2
4POLR1E
4PRSS3
4PSIP1
4PSMD6
4PTAR1
4PTPRD
4PTPRD-DT
4PTPRG
4PUM3
4PWAR1
4PWAR4
4PWAR5
4PWAR6
4PWARSN
4PWRN1
4PWRN2
4PWRN3
4PWRN4
4RANBP6
4RCL1
4RFX3-DT
4RGP1
4RIC1
4RLN1
4RLN2
4RNF38
4RPP25L
4RPS6
4RRAGA
4SAXO1
4SCARNA8
4SETD6
4SH3GL2
4SIGMAR1
4SIT1
4SLC10A2
4SLC24A2
4SLC25A51
4SMC5
4SMC5-DT
4SMU1
4SNAPC3
4SNORA30B
4SNURF
4SPAAR
4SPAG8
4SPATA31A1
4SPATA31A3
4SPATA31A5
4SPATA31A6
4SPATA31A7
4SPATA31F1
4SPATA31F3
4SPATA31G1
4SPATA6L
4SPINK4
4SPMIP6
4STOML2
4SUCLG2
4SYNPR
4TAF1L
4TAFA1
4TAFA4
4TESK1
4TEX30
4THOC7
4TLN1
4TMEM215
4TMEM252
4TMEM252-DT
4TMEM8B
4TOMM5
4TPD52L3
4TRE-TTC2-2
4TRH-GTG1-6
4TRMT10B
4TTC39B
4TUBGCP5
4TUSC1
4TYRP1
4TZMP1
4UBAP1
4UBAP2
4UBE2R2
4UHRF2
4UNC13B
4XLOC_007697
4ZBTB5
4ZCCHC7
4ZDHHC21
4ZNF658
4ZNG1C
4ZNG1E
4ZNG1F
4PRKN
Def

Gait ataxia

4RPL10
Def

Ataxia

4DNAJA2

DnaJ heat shock protein family (Hsp40) member A2

4NAXD
Def

Gait ataxia

4SPEN
Def

Ataxia

4TPK1
Mod

Episodic ataxia

3EPRS1

Ataxia

3ZBTB11

Ataxia

3CD5L

CD5 molecule like

3TBX15

T-box transcription factor 15

3MIMS2

mitochondrial inner membrane scaffold 2

3BCKDHA
Def

Ataxia

3CHAMP1
Def

Gait ataxia

3CLCN4
Def

Progressive cerebellar ataxia

3CPS1
Def

Ataxia

3GTPBP2
Def

Ataxia

3HEPACAM
Def

Ataxia

3MMADHC
Def

Spastic ataxia

3PTS
Def

Ataxia

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