Genomics England

Adult onset dystonia, chorea or related movement disorder (Version: )

Relevant disorders: Adult onset movement disorder, R56

Signed off date: 7 Aug 2024

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

76 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ACTB	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	AFG3L2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ANO3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	APTX	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATN1_CAG STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATP13A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP1A2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ATP1A3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ATP7B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATXN1_CAG STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATXN2_CAG STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATXN3_CAG STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	C19orf12	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	C9orf72_GGGGCC STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	CACNA1A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CACNA1A_CAG STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	CHMP2B	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSF1R	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CSTB_CCCCGCCCCGCG STR	BIALLELIC, autosomal or pseudoautosomal	N/A	STR
Green	CYP27A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCAF17	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCTN1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DNAJC6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBXO7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FTL	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GBA	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	GCH1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GFAP	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GNAL	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GRN	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GTPBP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HPCA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	JPH3_CTG STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	KIAA1161	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name, gene-checked
Green	KMT2B	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	LRRK2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	LYST	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAPT	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NKX2-1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PANK2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PARK7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDGFB	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PDGFRB	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PINK1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLA2G6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNKD	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PPP2R2B_CAG STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	PPP2R5D	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PRKN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRKRA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRNP	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PRRT2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RAB39B	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	RNF216	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGCE	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	N/A	N/A
Green	SLC19A3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC20A2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SLC2A1	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	SLC30A10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SNCA	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SPG11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPR	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SYNJ1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBK1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TBP_CAG STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	THAP1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TIMM8A	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	TOR1A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TUBB4A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	VPS13A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS16	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	VPS35	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	WDR45	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	XPR1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A

Adult onset dystonia, chorea or related movement disorder (Version: 4.03.123.02.01.1211.14)

Adult onset dystonia, chorea or related movement disorder (Version: )