Genomics England

Adult onset neurodegenerative disorder (Version: )

In April 2026 this test was removed from the National Genomic Test Directory. It was replaced with four new tests for 1) Young onset or familial dementia, 2) Young onset or complex Parkinson disease, 3) Amyotrophic lateral sclerosis and 4) Cerebral amyloid angiopathy. All have the gene content of the new super panel for Adult-onset neurological disorders (ID 1669).

Relevant disorders: Neurodegenerative disorders - adult onset, Young onset or familial dementia, Young onset or complex Parkinson disease, Amyotrophic lateral sclerosis, Cerebral amyloid angiopathy, R58

Signed off date: 6 May 2026

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

See this panel in PanelApp

133 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	founder-effect
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	ATXN10_ATTCT STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
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	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	CACNA1A_CAG 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	DNAJC7	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
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	GBA	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable, new-gene-name
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	ISCA-37446-Loss 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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	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	NAA60	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEK1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NHLRC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NOP56_GGCCTG STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
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	POLG	BOTH monoallelic and 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	RAB32	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	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	treatable
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	digenic, Q1_26_MOI, Q1_26_NHS_review
Green	SPTLC1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	SPTLC2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	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	TUBA4A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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: 9.08.07.06.05.04.344.03.02.1782.31)

Adult onset neurodegenerative disorder (Version: )