Genomics England

Adult onset neurodegenerative disorder (Version: )

Relevant disorders: Neurodegenerative disorders - adult onset, R58

Signed off date: 6 Dec 2023

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

118 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ABCD1	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	AFG3L2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	ALS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANG	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ANXA11	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	APP	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	AR_CAG STR	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	STR
Green	ARSA	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	ATP1A3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	treatable
Green	ATP7B	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	AUH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
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	CACNA1G	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	CCNF	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHCHD10	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHCHD2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHMP2B	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CLCN2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COASY	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL4A1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COL4A2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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	adult-onset
Green	CTSA	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CTSF	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP27A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP7B1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCTN1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DNAJB2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJC5	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DNAJC6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNMT1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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	ERBB4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FBXO7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FTL	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FUS	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GBE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
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	GLA	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	GRN	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GSN	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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	HNRNPA1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HTRA1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	HTT_CAG STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ITM2B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	JPH3_CTG STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	KCNC3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KCND3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KIAA1161	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name, gene-checked
Green	KIF5A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	LAMB1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRRK2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	missense, curated-variant-list
Green	LYST	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAPT	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	treatable
Green	NEK1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NHLRC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NOTCH3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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	OPTN	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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, imprinted status unknown	N/A	N/A
Green	PDGFRB	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PFN1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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	PRKN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRNP	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PSAP	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PSEN1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PSEN2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RNF216	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SETX	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SLC20A2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SNCA	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	gene-duplication
Green	SOD1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	SPAST	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SPG11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPG21	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	SQSTM1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SS18L1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	STUB1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SYNJ1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TARDBP	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	polygenic
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	TMEM240	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TREM2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TREX1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TTC19	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TYROBP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBQLN2	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	VAPB	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	VCP	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	VPS13A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS35	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense
Green	VRK1	BIALLELIC, autosomal or pseudoautosomal	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	XK	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 neurodegenerative disorder (Version: 4.414.344.03.02.1782.31)

Adult onset neurodegenerative disorder (Version: )