Genomics England

Ataxia and cerebellar anomalies - narrow panel (Version: )

This panel is a component of a whole genome sequencing super panel and is only requestable via the superpanel.

Signed off date: 6 Dec 2023

Panel types: GMS Rare Disease, Component Of Super Panel, GMS signed-off

220 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	AAAS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCB7	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ABHD12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACO2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ADGRG1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADPRHL2	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	AFG3L2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	ALDH5A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AMPD2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANO10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP1S2	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	APTX	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATAD3A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATCAY	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATG7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP1A3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ATP6V0A1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ATP8A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATXN2_CAG STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATXN7_CAG STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	B3GALNT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GAT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CA8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA1A	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA1G	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	CAD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CAMTA1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/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/A	N/A
Green	CHMP1A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLCN2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLP1	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	COA7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ4	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	COQ8A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX20	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSTB	BIALLELIC, autosomal or pseudoautosomal	N/A	nucleotide-repeat-expansion
Green	CSTB_CCCCGCCCCGCG STR	BIALLELIC, autosomal or pseudoautosomal	N/A	STR
Green	CTBP1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	missense
Green	CWF19L1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP27A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDHD2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHDDS	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DKC1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	DNAJC19	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJC5	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DNMT1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DOCK3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPYSL5	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EBF3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EIF2B1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ELOVL4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EPM2A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXOSC3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FA2H	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBXL4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FEM1C	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	FGF14	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FKRP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKTN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FLVCR1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FOLR1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FRMD5	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FXN	BIALLELIC, autosomal or pseudoautosomal	N/A	nucleotide-repeat-expansion
Green	FXN_GAA STR	BIALLELIC, autosomal or pseudoautosomal	N/A	STR
Green	GBA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GEMIN5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFAP	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GJC2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GOSR2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GPAA1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GRID2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GRM1	BIALLELIC, autosomal or pseudoautosomal	N/A	watchlist_moi
Green	GRN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HEXA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HEXB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INTS11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IRF2BPL	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ISCA-37404-Loss 15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37478-Gain 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37478-Loss 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-46553-Loss 3q24 Region (includes ZIC1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISPD	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ITPR1	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Other	N/A
Green	KCNA1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KCNA2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	KCNC3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCND3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNJ10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KCNN2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KIF1A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	watchlist_moi
Green	KIF1C	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMA1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LARGE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAG	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAPK8IP3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MINPP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMACHC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MORC2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MRE11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MSTO1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MT-ATP6	MITOCHONDRIAL	N/A	gene-checked
Green	MTCL1	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	MTFMT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTTP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MVK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAXE	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NFASC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NHLRC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NKX2-1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NKX6-2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPC2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPTX1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	OGDHL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OPA1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	OPA3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/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/A	N/A
Green	PAX6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDYN	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PEX16	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX6	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	PI4KA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PITRM1	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	PLA2G6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMPCA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMPCB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNKP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPLA6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLG	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	POLR3A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLR3B	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POU4F1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PRDM13	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRDX3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRKCG	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PRNP	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PRRT2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PTF1A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RELN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNF170	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RNF216	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNF220	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ROBO3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RORA	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SACS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCN1A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SCN2A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	SCN8A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SCYL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SEPSECS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SETX	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SIL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC17A5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC1A3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SLC25A46	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC2A1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SLC44A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC52A2	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	SLC9A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/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/A	N/A
Green	SNAP25	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SNX14	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPG7	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	SPR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPTAN1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SPTBN2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SQSTM1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SRD5A3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STUB1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SUFU	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SYNE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBC1D23	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TDP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TECPR2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TINF2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TMEM240	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TMEM5	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TOE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TPP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSEN2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSEN34	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSEN54	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTBK2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TTC19	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTPA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TUBA1A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TUBB2B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TUBB3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TUBB4A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	TWNK	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	UBTF	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	UCHL1	BIALLELIC, autosomal or pseudoautosomal	N/A	Q3_23_MOI
Green	VLDLR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS13D	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS41	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VRK1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR73	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR81	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WFS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WWOX	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XRCC1	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect

Ataxia and cerebellar anomalies - narrow panel (Version: 4.404.03.02.23)

Ataxia and cerebellar anomalies - narrow panel (Version: )