Genes associated with “ataxia”

Diagnostic yield calculator →
465 genes foundHPO: Ataxia5 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
hover for details

Strong Candidates

54 genes
1
51
score
Panel: Green (4) ↑P2G #2GTR ↑

Ataxia

Frequency
80%
n=5
P/LP Variants
6
OT Score
-
2
50
score
ClinGen: DefinitivePanel: Green (5) ↑P2G #32GTR ↑
Frequency
-
P/LP Variants
12
OT Score
-
3
46
score
ClinGen: DefinitivePanel: Green (3) ↑GTR ↑
Frequency
-
P/LP Variants
6
OT Score
-
4
45
score
ClinGen: DefinitivePanel: Green (4) ↑GTR ↑

Gait ataxia

Frequency
98%
n=53
P/LP Variants
3
OT Score
-
5
44
score
ClinGen: DefinitivePanel: Green (4) ↑P2G #27GTR ↑

Nonprogressive cerebellar ataxia

Frequency
100%
n=12
P/LP Variants
2
OT Score
-
6
44
score
ClinGen: DefinitivePanel: Green (4) ↑GTR ↑

Ataxia

Frequency
55%
n=11
P/LP Variants
1
OT Score
-
7
41
score
ClinGen: DefinitivePanel: Green (4) ↑GTR ↑

Cerebellar ataxia associated with quadrupedal gait

Frequency
100%
n=4
P/LP Variants
1
OT Score
-
8
40
score
ClinGen: DefinitivePanel: Green (4) ↑GTR ↑
Frequency
-
P/LP Variants
3
OT Score
-
9
38
score
ClinGen: DefinitivePanel: Green (4) ↑P2G #26GTR ↑

Ataxia

Frequency
-
P/LP Variants
5
OT Score
-
37AFG3L2
DefP:G×4

Dysdiadochokinesis

36KCNA1
DefP:G×4
33NPC1
DefP:G×4

Gait ataxia

33SPG7
DefP:G×4

Dysdiadochokinesis

33SLC1A3
DefP:G×4

Episodic ataxia

32SPTBN2
DefP:G×4
32SETX
DefP:G×4

Limb ataxia

30CWF19L1
DefP:G×4
30SCN8A
DefP:G×4
30KCNC3
DefP:G×4

Progressive cerebellar ataxia

29ANO10
DefP:G×4

Gait ataxia

29FA2H
DefP:G×2

Dysdiadochokinesis

28GFAP
DefP:G×4
28FLVCR1
DefP:G×4
28SNX14
DefP:G×4
27SLC9A6
DefP:G×4
27TDP2
DefP:G×2
27AGTPBP1
DefP:G×2

Ataxia

26SCN1A
DefP:G×3
26TPP1
DefP:G×4

Dysmetria

26KCNJ10
DefP:G×4
26MVK
DefP:G×4
24PRKCG
P:G×4

Progressive cerebellar ataxia

24PMPCA
DefP:G×4

Dysmetria

24CACNA1G
DefP:G×4

Spastic ataxia

24OPA1
DefP:G×3
23NPC2
DefP:G×4
23PDHA1
Def#9
23UBE3A
Def#13
23PNKP
DefP:G×4

Ataxia

22MECP2
Def
22IRF2BPL
DefP:G×3
22PLA2G6
DefP:G×4
22PLP1
Def#15

Dysmetria

22SURF1
Def#17
22ABHD12
DefP:G×4

Ataxia

21STUB1
P:G×4
21ASL
DefP:G×2#10

Ataxia

21GDAP2
StrP:G
21LAMA1
P:G×2
20OFD1
DefP:G

Dysmetria

20OPA3
ModP:G×4
20DLD
Def
20POLR3A
DefP:G×4
20RTN4IP1
Def

Consider

136 genes
20GJC2
DefP:G×4

Ataxia

19PRPS1
DefP:A#7

Ataxia

19DLG4
DefP:G×2
19SPG11
Def

Ataxia

19GRN
DefP:G×3

Ataxia

19RNU12
ModP:R×2

Truncal ataxia

19TTBK2
P:G×4
19PI4KA
P:G×3
19PMM2
DefP:G
19WWOX
DefP:G×4
19SPTAN1
DefP:G×3

Ataxia

19PRICKLE1
LimP:R×4
19CAPRIN1
ModP:A×2

Ataxia

18ATXN10
P:R×4

Limb ataxia

18ATP1A3
DefP:G×4
18DARS2
DefP:G×4
18EIF2B1
DefP:G×4
18EPM2A
DefP:G×4
18KIF1C
P:G×4
18TINF2
DefP:G×3

Ataxia

18ATN1
DefP:R×4

Ataxia

17PNPT1
ModP:G×3
17DKC1
DefP:G×2

Ataxia

17ELOVL4
DefP:G×4

Dysdiadochokinesis

17MARS2
DefP:G×4

Spastic ataxia

17MSTO1
DefP:G×3

Limb ataxia

17MTPAP
DefP:A×4

Spastic ataxia

17TGM6
P:G×4
17PNPLA6
DefP:G×4

Gait ataxia

17GLS
DefP:A×2

Progressive cerebellar ataxia

17VRK1
P:G×4

Ataxia

17COX15
Def

Truncal ataxia

16SLC19A3
Def

Gait ataxia

16VPS13D
LimP:G×4
16GOSR2
DefP:G×4

Ataxia

16PDYN
LimP:G×4

Limb ataxia

16EIF2B3
DefP:G×4
16EIF2B4
DefP:G×4
16EIF2B5
DefP:G×4
16MFSD8
DefP:G×3
16NHLRC1
DefP:G×4
16SLC52A2
DefP:G×3
16SQSTM1
ModP:G×3

Gait ataxia

16TDP1
P:G×4
16XRCC1
P:G×4

Limb ataxia

15MRE11
RefP:G×4
15VPS41
P:G×3
15ABCA2
P:A×2
15PUM1
P:G
15WDR81
P:G×4

Ataxia

15ABCB7
ModP:G×4
15AHDC1
Def
15ANKRD11
Def
15CNOT1
Def
15FDXR
DefP:G×2
15NFIX
Def
15STXBP1
Def
15SYNGAP1
DefP:G
15THG1L
LimP:G×3
15GRM1
P:G×4

Gait ataxia

15UCHL1
DefP:G×4

Ataxia

15SAMD9L
DefP:G

Dysdiadochokinesis

15TACO1
Def

Truncal ataxia

14DOCK3
P:G×2
14TANGO2
P:G×2
14ERCC4
DefP:G

Ataxia

14POU4F1
P:G×2

Dysmetria

14COA7
DefP:G×3

Ataxia

14COQ4
DefP:G×3

Dysmetria

13XPA
Def

Ataxia

13ATP2B3
P:G×4
13CACNA1C
Def
13CEP104
DefP:G
13CMTX4

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

13COQ8A
P:G×4
13CSNK2B
Def
13EA1

EPISODIC ATAXIA, TYPE 1; EA1

13FGF14
P:G×4
13GRID2
P:G×4
13GRIN2A
Def
13MFN2
DefP:G
13MLC1
Def
13MMAA
Def
13MMAB
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
13UBA5
DefP:G
13WDR62
Def
13PRDX3
P:G×3

Limb ataxia

13TMEM240
P:G×4

Ataxia

13POLR3B
DefP:G×2

Gait ataxia

12KIF1A
DefP:G×2

Dysmetria

12KMT2B
Def
12ADPRS

Dysmetria

12FRMD5
P:G×2

Ataxia

12NDUFS6
Def
12CTBP1
P:G×2
12DNAJC19
DefP:G×4

Nonprogressive cerebellar ataxia

11CHP1
P:A×4

Ataxia

11TECPR2
P:G×2

Gait ataxia

11NARS1
Mod
11CLN5
DefP:G×2

Dysmetria

11MAN2B1
Def
11COQ5
ModP:A×2

Ataxia

11EXOSC5
P:G×2

Ataxia

11RUBCN
P:R×4

Ataxia

11PTRH2
P:G×3

Dysmetria

11PITRM1
P:G×2

Dysmetria

11DLAT
Mod

Ataxia

10CCDC88C
P:R×4

Dysmetria

10COX6B1
Def

Limb ataxia

10CTDP1
10NDUFA1
Mod

Ataxia

10C11ORF65
10SLC6A1
10VWA3B
10ERCC2
Def

Ataxia

9ERCC6
Def

Ataxia

9ERCC5
Def
9LYST
Def
9MMUT
Def
9PPT1
Def

Ataxia

9APOB
DefSF
9ATP1A2
DefP:G

Episodic ataxia

9CLPB
Lim
9CSPP1
DefP:G

Ataxia

9NFASC
P:G×3

Ataxia

9ERCC3
Def

Ataxia

8BEAN1
P:R×4

Ataxia

8NOP56
P:R×4

Gait ataxia

8SNHG14
8ZFHX3
P:R×2

Possible

247 genes — click to expand
8POLR1C
Def

Ataxia

7RAD50
Ref

Ataxia

7B9D1
DefP:R

Ataxia

7ACSF3
Def
7ADA2
Def
7ALDH7A1
Def
7CDT1
Def
7ESPN
Def
7GABRB3
Def
7GALNS
Def
7GAN
Def
7KCNC1
Def
7MAGEL2
Def
7MTHFR
Def
7MTOR
Def
7NMNAT1
Def
7NPHP4
Def
7OCA2
Def
7PARK7
Def
7PEX14
Def
7PIEZO1
Def
7PIK3CD
Def
7PLEKHG5
Def
7POLH
Def
7PSAT1
Def
7RERE
Def
7TARDBP
Def
7TNFRSF9
Def
7TPP2
Def
7WARS2
Def
7SDHB
DefSF

Ataxia

6BIVM-ERCC5
6CDH15
Dis
6SLC22A31
6ZNF778
6ZNF778-DT
6PDP1

Gait ataxia

6CLCN6
Mod
6FRMD4A
P:R×3

Ataxia

6PRDM16
Str
6TMEM107
P:G

Ataxia

6TP73
Str
6BCL11A
Def

Truncal ataxia

5MBD5
Def

Ataxia

5TRNT1
Def

Ataxia

5CTCF
Def

Ataxia

5ANOS1
Def

Ataxia

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
5MFSD2A

Ataxia

5OTC
DefSF

Episodic 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

5GRIK2
Def

Gait ataxia

5PEX10
Def

Gait ataxia

5SATB1
Def

Ataxia

5CEP120
Def

Truncal ataxia

5CTSA
Def

Dysmetria

5FRMPD4
Def

Ataxia

5KDM6B
Def

Ataxia

5TBC1D24
Def

Gait ataxia

5UNC13A
Def

Truncal ataxia

5PDE8B

Dysdiadochokinesis

4ATG5
Lim

Dysmetria

4HCN1
Def

Ataxia

4PPP1R21
Def

Gait ataxia

4TBCD
Def

Ataxia

4AP5Z1
Def

Dysmetria

4SFXN4
Def

Dysmetria

4SLC25A15
Def

Dysdiadochokinesis

4AADACL3
4AADACL4
4ABHD18
4ACOT7
4ACTRT2
4AGTRAP
4AJAP1
4ANGPTL7
4ARHGEF16
4ATP10A
4ATP10A-DT
4C1ORF167
4C1ORF174
4CA6
4CAMTA1-DT
4CAMTA1-IT1
4CBFA2T3
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
4GRAMD2B
4H6PD
4HERC2
4HES2
4HES3
4HES5
4HNRNPCL1
4HNRNPCL2
4HNRNPCL3
4HNRNPCL4
4ICE2
4ICMT-DT
4ITGBL1
4KCNAB2
4KIAA2013
4KLHL21
4LMNB1-DT
4LNCTAM34A
4LRRC38
4LRRC47
4LRTM3
4MAD2L2
4MASP2
4MEGF6
4METTL21C
4MKRN3
4MMEL1
4NALCN
4NIPA1
4NIPA2
4NOL9
4NPAP1
4NPPA
No
4PABPN1L
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
4RAB9B
4RBP7
4RNF207
4RNU5E-1
4RPL22
4SLC10A2
4SLC25A33
4SLC2A5
4SLC2A7
4SLC45A1
4SMIM1
4SNORA59A
4SNRPN
4SNURF
4SPMIP10
4SPSB1
4TAS1R1
4TEX30
4THAP3
4TMEM201
4TNFRSF14
4TNFRSF1B
4TNFRSF25
4TNFRSF8
4TPRG1L
4TRAPPC2L
4TRE-TTC2-2
4TTC34
4TUBGCP5
4UBE4B
4UBIAD1
4UTS2
4VAMP3
4WRAP73
4ZBTB48
4RFXAP
Def

Ataxia

4TIMMDC1
Def

Dysmetria

4POLG2
P:R

Ataxia

4SPEN
Def

Ataxia

4SLC52A3
Def

Truncal ataxia

3BCKDK
Def

Ataxia

3H4C5
Str

Ataxia

3ABHD5
Def

Ataxia

3EIF2S3
Def

Gait ataxia

3GBA1
Def

Ataxia

3HEPACAM
Def

Ataxia

3HSD17B4
Def

Gait ataxia

3MMADHC
Def

Spastic ataxia

3NFU1
Def

Gait 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.