Genomics England

Hereditary ataxia and cerebellar anomalies - childhood onset (Version: )

There is a more recent signed-off version of this panel

Relevant disorders: Hereditary ataxia with onset in childhood, Cerebellar anomalies, R55, R84

This panel contains these 3 panels:

Ataxia and cerebellar anomalies - narrow panel
Neurological ciliopathies
Congenital disorders of glycosylation

Signed off date: 9 Oct 2020

Panel types: GMS Rare Disease Virtual, Super Panel, GMS signed-off

See this panel in PanelApp

253 unique green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	AAAS Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCB7 Ataxia and cerebellar anomalies - narrow panel	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	ABHD12 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADGRG1 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AFG3L2 Ataxia and cerebellar anomalies - narrow panel	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	AHI1 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG1 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG11 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG12 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG3 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	pathogenic-synonymous
Green	ALG6 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG8 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG9 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AMPD2 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANO10 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP1S2 Ataxia and cerebellar anomalies - narrow panel	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 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL13B Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARMC9 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSA Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATCAY Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATM Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP1A3 Ataxia and cerebellar anomalies - narrow panel	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ATP6AP1 Congenital disorders of glycosylation	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ATP6V0A2 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATXN2_CAG Ataxia and cerebellar anomalies - narrow panel STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATXN7_CAG Ataxia and cerebellar anomalies - narrow panel STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	B3GALNT2 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GALNT2 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GALT6 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GAT3 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GLCT Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GALT1 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GALT7 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B9D2 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C2CD3 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C5orf42 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	CA8 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA1A Ataxia and cerebellar anomalies - narrow panel	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CACNA1G Ataxia and cerebellar anomalies - narrow panel	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	CAMTA1 Ataxia and cerebellar anomalies - narrow panel	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CASK Ataxia and cerebellar anomalies - narrow panel	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	CC2D2A Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC115 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CENPF Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP104 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP290 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP41 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHMP1A Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHST14 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHST3 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHST6 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHSY1 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLCN2 Ataxia and cerebellar anomalies - narrow panel	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CLN6 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG1 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG4 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG5 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	non-coding-known-pathogenic
Green	COG6 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG7 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG8 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ8A Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX20 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CP Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CRB2 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSPP1 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSTB_CCCCGCCCCGCG Ataxia and cerebellar anomalies - narrow panel STR	BIALLELIC, autosomal or pseudoautosomal	N/A	STR
Green	CTBP1 Ataxia and cerebellar anomalies - narrow panel	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	missense
Green	CWF19L1 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP27A1 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP2U1 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DARS2 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDHD2 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX59 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DKC1 Ataxia and cerebellar anomalies - narrow panel	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	DNAJC19 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJC5 Ataxia and cerebellar anomalies - narrow panel	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DNMT1 Ataxia and cerebellar anomalies - narrow panel	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DOLK Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPAGT1 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM1 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM3 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B1 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B2 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B3 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B4 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B5 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ELOVL4 Ataxia and cerebellar anomalies - narrow panel	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EPM2A Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EVC Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EVC2 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXOSC3 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXT1 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXT2 Congenital disorders of glycosylation	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FGF14 Ataxia and cerebellar anomalies - narrow panel	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FKRP Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKRP Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKTN Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKTN Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FLVCR1 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FMR1 Ataxia and cerebellar anomalies - narrow panel	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	FOLR1 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FUT8 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FXN Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FXN_GAA Ataxia and cerebellar anomalies - narrow panel STR	BIALLELIC, autosomal or pseudoautosomal	N/A	STR
Green	GALNT3 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GBA2 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFAP Ataxia and cerebellar anomalies - narrow panel	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GFPT1 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GJC2 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLI3 Neurological ciliopathies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GMPPB Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPB Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNE Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GOSR2 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GPAA1 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GRID2 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GRM1 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HEXA Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HEXB Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HYLS1 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ICK Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	INPP5E Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA-37404-Loss Ataxia and cerebellar anomalies - narrow panel 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 Ataxia and cerebellar anomalies - narrow panel 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 Ataxia and cerebellar anomalies - narrow panel 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISPD Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ISPD Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ITPR1 Ataxia and cerebellar anomalies - narrow panel	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Other	N/A
Green	KCNA1 Ataxia and cerebellar anomalies - narrow panel	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KCNC3 Ataxia and cerebellar anomalies - narrow panel	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCND3 Ataxia and cerebellar anomalies - narrow panel	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNJ10 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIAA0586 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIAA0753 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIF1C Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIF7 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LARGE1 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LARGE1 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAN1B1 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MARS2 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MGAT2 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MKS1 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	MMACHC Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MOGS Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MORC2 Ataxia and cerebellar anomalies - narrow panel	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MPDU1 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPI Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MRE11 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MT-ATP6 Ataxia and cerebellar anomalies - narrow panel	MITOCHONDRIAL	N/A	N/A
Green	MTTP Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NGLY1 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NHLRC1 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NKX6-2 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPC1 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPC2 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP1 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP3 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OFD1 Neurological ciliopathies	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	OPA3 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OPHN1 Ataxia and cerebellar anomalies - narrow panel	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 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDYN Ataxia and cerebellar anomalies - narrow panel	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PEX16 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGAP2 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGAP3 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGM1 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGM3 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGA Congenital disorders of glycosylation	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	Skewed X-inactivation
Green	PIGL Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGN Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGO Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGT Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGV Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLA2G6 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMM2 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMM2 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMPCA Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNKP Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPLA6 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLG Ataxia and cerebellar anomalies - narrow panel	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	POLR3A Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT1 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT1 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT2 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT2 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT1 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT1 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT2 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT2 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRKCG Ataxia and cerebellar anomalies - narrow panel	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PRNP Ataxia and cerebellar anomalies - narrow panel	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PRRT2 Ataxia and cerebellar anomalies - narrow panel	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PTF1A Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RARS2 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RELN Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RFT1 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNF170 Ataxia and cerebellar anomalies - narrow panel	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RNF216 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ROBO3 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RPGRIP1L Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SACS Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SAR1B Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCLT1 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SEC23B Congenital disorders of glycosylation	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SEPSECS Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SETX Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SIL1 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC1A3 Ataxia and cerebellar anomalies - narrow panel	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SLC2A1 Ataxia and cerebellar anomalies - narrow panel	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SLC35A1 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC35C1 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC35D1 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC39A8 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC9A6 Ataxia and cerebellar anomalies - narrow panel	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	SNX14 Ataxia and cerebellar anomalies - narrow panel	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	SPG7 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPTBN2 Ataxia and cerebellar anomalies - narrow panel	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SRD5A3 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SRD5A3 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SSR4 Congenital disorders of glycosylation	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ST3GAL5 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STUB1 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SYNE1 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN1 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN2 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN3 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TGM6 Ataxia and cerebellar anomalies - narrow panel	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TINF2 Ataxia and cerebellar anomalies - narrow panel	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TMEM107 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM138 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM165 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM216 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM231 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM237 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM240 Ataxia and cerebellar anomalies - narrow panel	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TMEM5 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TMEM5 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TMEM67 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TOE1 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TPP1 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSEN2 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSEN34 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSEN54 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTBK2 Ataxia and cerebellar anomalies - narrow panel	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TTC19 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTPA Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TUBA1A Ataxia and cerebellar anomalies - narrow panel	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TUBB2B Ataxia and cerebellar anomalies - narrow panel	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TUBB3 Ataxia and cerebellar anomalies - narrow panel	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TUBB4A Ataxia and cerebellar anomalies - narrow panel	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	TUSC3 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TWNK Ataxia and cerebellar anomalies - narrow panel	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TXNDC15 Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VLDLR Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS13B Neurological ciliopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS13D Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VRK1 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR73 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR81 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WFS1 Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WWOX Ataxia and cerebellar anomalies - narrow panel	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XYLT1 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XYLT2 Congenital disorders of glycosylation	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZSWIM6 Neurological ciliopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A

Hereditary ataxia and cerebellar anomalies - childhood onset (Version: 12.19.16.51)

Hereditary ataxia and cerebellar anomalies - childhood onset (Version: )