Genes associated with “ataxia”

Diagnostic yield calculator →
232 genes foundHPO: AtaxiaOpen Targets: cerebellar 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
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Strong Candidates

59 genes
1
CAMTA1 →

calmodulin binding transcription activator 1

63
score
ClinGen: DefinitivePanel: Green (4) ↑GTR ↑

Ataxia

Frequency
55%
n=11
P/LP Variants
17
OT Score
0.80
2
ATM →

ATM serine/threonine kinase

62
score
ClinGen: DefinitivePanel: Green (5) ↑P2G #32GTR ↑
Frequency
-
P/LP Variants
3
OT Score
0.88
3
ITPR1 →

inositol 1,4,5-trisphosphate receptor type 1

62
score
ClinGen: DefinitivePanel: Green (4) ↑P2G #27GTR ↑

Nonprogressive cerebellar ataxia

Frequency
100%
n=12
P/LP Variants
123
OT Score
0.85
4
VLDLR →

very low density lipoprotein receptor

60
score
ClinGen: DefinitivePanel: Green (4) ↑GTR ↑

Cerebellar ataxia associated with quadrupedal gait

Frequency
100%
n=4
P/LP Variants
62
OT Score
0.79
5
ATP8A2 →

ATPase phospholipid transporting 8A2

56
score
ClinGen: DefinitivePanel: Green (4) ↑GTR ↑

Cerebellar ataxia associated with quadrupedal gait

Frequency
-
P/LP Variants
42
OT Score
0.81
6
KCNC3 →

potassium voltage-gated channel subfamily C member 3

55
score
ClinGen: DefinitivePanel: Green (4) ↑GTR ↑

Progressive cerebellar ataxia

Frequency
-
P/LP Variants
11
OT Score
0.85
7
SYNE1 →

spectrin repeat containing nuclear envelope protein 1

54
score
ClinGen: DefinitivePanel: Green (4) ↑GTR ↑

Limb ataxia

Frequency
98%
n=53
P/LP Variants
1
OT Score
0.81
8
ANO10 →

anoctamin 10

53
score
ClinGen: DefinitivePanel: Green (4) ↑GTR ↑

Gait ataxia

Frequency
100%
n=8
P/LP Variants
26
OT Score
0.80
9
AFG3L2 →

AFG3 like matrix AAA peptidase subunit 2

50
score
ClinGen: DefinitivePanel: Green (4) ↑GTR ↑

Dysdiadochokinesis

Frequency
100%
n=1
P/LP Variants
1
OT Score
0.84
45CYP27A1
DefP:G×4#14

cytochrome P450 family 27 subfamily A member 1

45CACNA1G
DefP:G×4

Ataxia

45FXN
DefP:G×4

frataxin

41SNX14
DefP:G×4

sorting nexin 14

40PDYN
LimP:G×4

Limb ataxia

39GRM1
P:G×4

Gait ataxia

38CACNA1A
P:G×4#2

Ataxia

37TMEM240
P:G×4

Ataxia

37SPTBN2
DefP:G×4

spectrin beta, non-erythrocytic 2

36FLVCR1
DefP:G×4

FLVCR choline and heme transporter 1

36DNMT1
DefP:G×4

DNA methyltransferase 1

36CWF19L1
DefP:G×4

CWF19 like cell cycle control factor 1

35SETX
DefP:G×4

Progressive gait ataxia

35WDR81
P:G×4

Gait ataxia

34SIL1
DefP:G×4

SIL1 nucleotide exchange factor

34TMEM237
DefP:G#1

transmembrane protein 237

34PRKCG
P:G×4

Progressive cerebellar ataxia

33NPC1
DefP:G×4

Gait ataxia

31TMEM67
DefP:G#16

transmembrane protein 67

31CC2D2A
DefP:G

coiled-coil and C2 domain containing 2A

31RPGRIP1L
DefP:G#12

RPGRIP1 like

30CEP290
DefP:G

centrosomal protein 290

30TMEM216
DefP:G

transmembrane protein 216

29AHI1
DefP:G

Abelson helper integration site 1

29TMEM231
DefP:G

transmembrane protein 231

27NPC2
DefP:G×4
27ABCB7
ModP:G×4

ATP binding cassette subfamily B member 7

27SPG7
DefP:G×4

Dysdiadochokinesis

27WWOX
DefP:G×4

WW domain containing oxidoreductase

27POLG
LimP:G×4
27AGTPBP1
DefP:G×2

Ataxia

26SCN1A
DefP:G×3
26TMEM138
ModP:G

transmembrane protein 138

25STUB1
P:G×4

STIP1 homology and U-box containing protein 1

24TWNK
DefP:G×4

twinkle mtDNA helicase

24PEX6
DefP:G×3

peroxisomal biogenesis factor 6

24ATP1A3
DefP:G×4

ATPase Na+/K+ transporting subunit alpha 3

23SLC2A1
DefP:G×4

Episodic ataxia

22SLC19A3
Def

Gait ataxia

22PHYH
Def
22VPS13D
LimP:G×4

vacuolar protein sorting 13 homolog D

22SAMD9L
DefP:G

Ataxia

22CSPP1
DefP:G

Ataxia

22ABHD12
DefP:G×4

Ataxia

22COQ8A
P:G×4

coenzyme Q8A

21KCND3
DisP:G×4

potassium voltage-gated channel subfamily D member 3

21ASL
DefP:G×2#10

Ataxia

21GRID2
P:G×4

glutamate ionotropic receptor delta type subunit 2

20OFD1
DefP:G

Dysmetria

20DLD
Def

Consider

96 genes
20FA2H
DefP:G×2

Dysdiadochokinesis

19PRPS1
DefP:A#7

Ataxia

19SLC9A1
ModP:G×3

Dysdiadochokinesis

19PMM2
DefP:G
19OPA1
DefP:G×3

Dysmetria

19TPP1
DefP:G×4

Dysmetria

18ATXN10
P:R×4

Limb ataxia

18TINF2
DefP:G×3

Ataxia

18KIAA0586
P:G

KIAA0586

18PUM1
P:G

pumilio RNA binding family member 1

18ATN1
DefP:R×4

Ataxia

18PNKP
DefP:G×4

Ataxia

18TCTN2
DefP:G

Ataxia

17MECP2
Def

Gait ataxia

17DKC1
DefP:G×2

Ataxia

17DNAJC19
DefP:G×4

Nonprogressive cerebellar ataxia

17PNPLA6
DefP:G×4

Gait ataxia

17GLS
DefP:A×2

Progressive cerebellar ataxia

17VRK1
P:G×4

Ataxia

17COX15
Def

Truncal ataxia

16GOSR2
DefP:G×4

Ataxia

16DARS2
DefP:G×4
16IRF2BPL
DefP:G×3
16POLR3A
DefP:G×4
16SLC52A2
DefP:G×3
15ANKRD11
Def
15LAMA1
P:G×2
15GJC2
DefP:G×4

Ataxia

15UCHL1
DefP:G×4

Ataxia

15PLP1
Def#15

Dysmetria

15TTC19
DefP:G×4

Gait ataxia

15ATP13A2
Def

Ataxia

14NOP56
P:R×4

Truncal ataxia

14ERCC4
DefP:G

Ataxia

14SPTAN1
DefP:G×3

Ataxia

14CAPRIN1
ModP:A×2

Ataxia

14COA7
DefP:G×3

Ataxia

14COQ4
DefP:G×3

Dysmetria

13POLR3B
DefP:G×2

Ataxia

13BTD
DefSF
13CACNA1C
Def
13EA1

EPISODIC ATAXIA, TYPE 1; EA1

13EA2

EPISODIC ATAXIA, TYPE 2; EA2

13MAN2B1
Def
13MLC1
Def
13MMAA
Def
13MMUT
Def
13NBN
Def
13PI4KA
P:G×3
13SCA1

SPINOCEREBELLAR ATAXIA 1; SCA1

13SCA7

SPINOCEREBELLAR ATAXIA 7; SCA7

13SPAX1

SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1

13ERCC3
Def
13PRDX3
P:G×3

Limb ataxia

12KIF1A
DefP:G×2

Dysmetria

12DAGLA
P:G×3

Ataxia

12SPG11
Def
12FRMD5
P:G×2

Ataxia

12ELOVL4
DefP:G×4

Dysdiadochokinesis

12GBA2
DefP:G×4

Limb dysmetria

12MARS2
DefP:G×4

Spastic ataxia

12MFSD8
DefP:G×3

Ataxia

12MTPAP
DefP:A×4

Spastic ataxia

11CHP1
P:A×4

Ataxia

11PTRH2
P:G×3

Ataxia

11PEX7
Def

Ataxia

11CLN5
DefP:G×2

Dysmetria

11SQSTM1
ModP:G×3

Gait ataxia

11COQ5
ModP:A×2

Ataxia

11PRDM13
P:G×2

Dysmetria

11RUBCN
P:R×4

Ataxia

11NDUFS4
Def

Ataxia

11XRCC1
P:G×4

Dysmetria

11PITRM1
P:G×2

Dysmetria

11DLAT
Mod

Ataxia

10ATXN7
P:R×4

Progressive cerebellar ataxia

10COX6B1
Def

Limb ataxia

10RNU12
ModP:R×2

Truncal ataxia

10NDUFA1
Mod

Ataxia

10POLGARF
10PIGA
DefP:G

Ataxia

10ERCC2
Def

Ataxia

9ERCC6
Def

Ataxia

9ERCC5
Def
9IFT140
Def
9KCTD7
Def
9PPT1
Def

Ataxia

9APOB
DefSF
9ATP1A2
DefP:G

Episodic ataxia

9CNOT1
Def
9NFASC
P:G×3

Ataxia

9PIGT
DefP:G

Ataxia

9CAPN1
P:G

Dysmetria

8XPA
Def

Ataxia

8BEAN1
P:R×4

Ataxia

8SLC35A1
ModP:G

Ataxia

Possible

52 genes — click to expand
8POLR1C
Def

Ataxia

7RAD50
Ref

Ataxia

7B9D1
DefP:R

Ataxia

7TBC1D24
Def
7WDR62
Def
7HEPACAM
Def

Ataxia

6BIVM-ERCC5
6TMEM107
P:G

Ataxia

6BCL11A
Def

Truncal ataxia

5PDGFRB

Limb dysmetria

5MBD5
Def

Ataxia

5TRNT1
Def

Ataxia

5CTCF
Def

Ataxia

5ATXPC

ATAXIA-PANCYTOPENIA SYNDROME; ATXPC

5CAMRQ1

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

5MED13L
Def

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

5SATB1
Def

Ataxia

5CEP120
Def

Truncal ataxia

5CTSA
Def

Dysmetria

5FRMPD4
Def

Ataxia

5KDM6B
Def

Ataxia

5NUBPL
Def

Ataxia

5SLC18A2
Def

Ataxia

5UNC13A
Def

Truncal ataxia

4ATG5
Lim

Dysmetria

4PPP1R21
Def

Gait ataxia

4TBCD
Def

Ataxia

4AP5Z1
Def

Dysmetria

4LITAF
Def

Ataxia

4PEX10
Def

Limb ataxia

4SFXN4
Def

Dysmetria

4SLC25A15
Def

Dysdiadochokinesis

4C11ORF65
4RFXAP
Def

Ataxia

4TIMMDC1
Def

Dysmetria

4HIKESHI
Def

Ataxia

4SPEN
Def

Ataxia

4SLC52A3
Def

Truncal ataxia

3BCKDK
Def

Ataxia

3H4C5
Str

Ataxia

3ABHD5
Def

Ataxia

3EIF2S3
Def

Gait ataxia

3GJB1
Def

Dysmetria

3HSD17B4
Def

Gait ataxia

3KCNJ16
Def

Ataxia

3MMADHC
Def

Spastic ataxia

3NEFL
Def

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.