Genomics England
GMS Panels
Panels
Genes and Entities

Hereditary ataxia with onset in adulthood (Version: )

Relevant disorders: Hereditary ataxia - adult onset, R54
Signed off date: 4 Oct 2024
Panel types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
See this panel in PanelApp
175 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
AAAS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ABHD12
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ADCY5
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
AFG3L2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
ANO10
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
APTX
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ARMC9
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ARSA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATCAY
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATM
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATN1_CAG
STR		MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/ASTR
Green
ATP1A2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Atreatable
Green
ATP1A3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Atreatable
Green
ATP7B
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
ATXN10_ATTCT
STR		MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/ASTR
Green
ATXN1_CAG
STR		MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/ASTR
Green
ATXN2_CAG
STR		MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/ASTR
Green
ATXN3_CAG
STR		MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/ASTR
Green
ATXN7_CAG
STR		MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/ASTR
Green
AUH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
B3GALNT2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BRF1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CA8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CACNA1A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Anucleotide-repeat-expansion, treatable
Green
CACNA1A_CAG
STR		MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/ASTR
Green
CACNA1G
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the commentsN/A
Green
CAMTA1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CAPN1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CASK
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
CLCN2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLN6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COA7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COASY
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COG5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COQ4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COQ8A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COX20
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CSTB
BIALLELIC, autosomal or pseudoautosomalN/Anucleotide-repeat-expansion
Green
CSTB_CCCCGCCCCGCG
STR		BIALLELIC, autosomal or pseudoautosomalN/ASTR
Green
CWF19L1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CYP27A1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CYP2U1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DARS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDHD2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DNAJC19
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DNAJC5
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DNMT1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
EIF2B1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EIF2B2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EIF2B3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EIF2B4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EIF2B5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ELOVL4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
EPM2A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ERCC4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EXOSC3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EXOSC8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EXOSC9
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FGF14
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
FLVCR1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FMR1_CGG
STR		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/ASTR
Green
FOLR1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FXN
BIALLELIC, autosomal or pseudoautosomalN/Anucleotide-repeat-expansion
Green
FXN_GAA
STR		BIALLELIC, autosomal or pseudoautosomalN/ASTR
Green
GBA2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GFAP
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
GJC2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GLRA1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
GLRB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GOSR2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GPAA1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GRID2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GRM1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
GRN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HEXA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HEXB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IRF2BPL
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ISCA-37404-Loss
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37478-Gain
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37478-Loss
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ITPR1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
KCNA1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Atreatable
Green
KCNA2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
KCNC3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
KCND3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KCNJ10
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KCNQ2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
KIF1C
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MARS2
BIALLELIC, autosomal or pseudoautosomalN/Acnv, gene-duplication
Green
MFN2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
MMACHC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MRE11
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MSTO1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MT-ATP6
MITOCHONDRIALN/Agene-checked
Green
MTTP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NAA60
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NHLRC1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NKX2-1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
NKX6-2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NOP56_GGCCTG
STR		MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/ASTR
Green
NPC1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NPC2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OPA1
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalOtherN/A
Green
OPA3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OPHN1
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
PACS2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
PEX16
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PEX6
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
PLA2G6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PMPCA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PMPCB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PNKD
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PNKP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PNPLA6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POLG
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
POLR3A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PPP2R2B_CAG
STR		MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/ASTR
Green
PRDX3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PRKCG
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PRNP
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PRRT2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Atreatable
Green
PTRH2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PUM1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
RARS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RNF170
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RNF216
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ROBO3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SACS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SAMD9L
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
SCN1A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SCN8A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SEPSECS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SETX
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SIL1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC1A3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SLC25A46
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC2A1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Atreatable
Green
SLC39A8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC52A2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC9A6
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
SNX14
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SPG7
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
SPR
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SPTAN1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SPTBN2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SQSTM1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SRD5A3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
STUB1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SYNE1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SYNGAP1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TBP_CAG
STR		MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/ASTR
Green
TDP1
BIALLELIC, autosomal or pseudoautosomalN/Afounder-effect
Green
TMEM240
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TOE1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TPP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TSEN2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TSEN54
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TTBK2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TTPA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TUBA1A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
TUBB2B
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
TUBB3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
TUBB4A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
TWNK
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
UBA5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
UCHL1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
VLDLR
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
VPS13D
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
VPS53
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WDR73
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WDR81
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WFS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WWOX
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ZFYVE26
BIALLELIC, autosomal or pseudoautosomalLoss-of-function variants DO NOT cause this phenotypeN/A