Genomics England

Adult-onset neurological disorders (Version: )

Relevant disorders: R54, R56, R60, R458, R459, R460, R461, Hereditary ataxia with onset in adulthood, Adult onset dystonia, chorea or related movement disorder, Adult onset hereditary spastic paraplegia, Young onset or familial dementia, Young onset or complex Parkinson disease, Amyotrophic lateral sclerosis, Cerebral amyloid angiopathy

This panel contains these 4 panels:

Hereditary ataxia with onset in adulthood
Adult onset neurodegenerative disorder
Adult onset hereditary spastic paraplegia
Adult onset dystonia, chorea or related movement disorder

Signed off date: 6 May 2026

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

See this panel in PanelApp

303 unique green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	AAAS Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCD1 Adult onset neurodegenerative disorder	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	ABCD1 Adult onset hereditary spastic paraplegia	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 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACTB Adult onset dystonia, chorea or related movement disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	ADAR Adult onset hereditary spastic paraplegia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADCY5 Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	AFG3L2 Adult onset neurodegenerative disorder	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	AFG3L2 Hereditary ataxia with onset in adulthood	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	AFG3L2 Adult onset dystonia, chorea or related movement disorder	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH18A1 Adult onset hereditary spastic paraplegia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ALS2 Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANG Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ANO10 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANO3 Adult onset dystonia, chorea or related movement disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ANXA11 Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	founder-effect
Green	AP5Z1 Adult onset hereditary spastic paraplegia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	APP Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	APTX Adult onset dystonia, chorea or related movement disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	APTX Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AR_CAG Adult onset neurodegenerative disorder 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	ARMC9 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSA Adult onset dystonia, chorea or related movement disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSA Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSA Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATCAY Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATL1 Adult onset hereditary spastic paraplegia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATM Adult onset dystonia, chorea or related movement disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATM Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATN1_CAG Adult onset dystonia, chorea or related movement disorder STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATN1_CAG Adult onset neurodegenerative disorder STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATN1_CAG Hereditary ataxia with onset in adulthood STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATP13A2 Adult onset dystonia, chorea or related movement disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP13A2 Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP13A2 Adult onset hereditary spastic paraplegia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP1A2 Adult onset dystonia, chorea or related movement disorder	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ATP1A2 Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	treatable
Green	ATP1A3 Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	treatable
Green	ATP1A3 Adult onset dystonia, chorea or related movement disorder	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ATP1A3 Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	treatable
Green	ATP7B Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	ATP7B Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	ATP7B Adult onset dystonia, chorea or related movement disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATXN10_ATTCT Hereditary ataxia with onset in adulthood STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATXN10_ATTCT Adult onset hereditary spastic paraplegia STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATXN10_ATTCT Adult onset neurodegenerative disorder STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATXN1_CAG Adult onset hereditary spastic paraplegia STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATXN1_CAG Hereditary ataxia with onset in adulthood STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATXN1_CAG Adult onset dystonia, chorea or related movement disorder STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATXN2_CAG Adult onset neurodegenerative disorder STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATXN2_CAG Adult onset hereditary spastic paraplegia STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATXN2_CAG Adult onset dystonia, chorea or related movement disorder STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATXN2_CAG Hereditary ataxia with onset in adulthood STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATXN3_CAG Hereditary ataxia with onset in adulthood STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATXN3_CAG Adult onset hereditary spastic paraplegia STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATXN3_CAG Adult onset dystonia, chorea or related movement disorder STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATXN7_CAG Adult onset neurodegenerative disorder STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATXN7_CAG Adult onset hereditary spastic paraplegia STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATXN7_CAG Hereditary ataxia with onset in adulthood STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	AUH Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AUH Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GALNT2 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GALNT1 Adult onset hereditary spastic paraplegia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BICD2 Adult onset hereditary spastic paraplegia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	BRF1 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BSCL2 Adult onset hereditary spastic paraplegia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	C19orf12 Adult onset dystonia, chorea or related movement disorder	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	C19orf12 Adult onset neurodegenerative disorder	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	C19orf12 Adult onset hereditary spastic paraplegia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	C9orf72_GGGGCC Adult onset neurodegenerative disorder STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	C9orf72_GGGGCC Adult onset dystonia, chorea or related movement disorder STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	CA8 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA1A Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	nucleotide-repeat-expansion, treatable
Green	CACNA1A Adult onset dystonia, chorea or related movement disorder	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CACNA1A_CAG Adult onset hereditary spastic paraplegia STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	CACNA1A_CAG Adult onset neurodegenerative disorder STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	CACNA1A_CAG Hereditary ataxia with onset in adulthood STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	CACNA1A_CAG Adult onset dystonia, chorea or related movement disorder STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	CACNA1G Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments	N/A
Green	CACNA1G Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	CAMTA1 Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CAPN1 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CAPN1 Adult onset hereditary spastic paraplegia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CASK Hereditary ataxia with onset in adulthood	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	CCNF Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHCHD10 Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHCHD2 Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHMP2B Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHMP2B Adult onset dystonia, chorea or related movement disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CLCN2 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLCN2 Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN6 Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN6 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COA7 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COASY Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COASY Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG5 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL4A1 Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COL4A2 Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COQ4 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ4 Adult onset hereditary spastic paraplegia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ8A Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX20 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CP Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CP Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CP Adult onset dystonia, chorea or related movement disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPT1C Adult onset hereditary spastic paraplegia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CSF1R Adult onset dystonia, chorea or related movement disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CSF1R Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	adult-onset
Green	CSTB Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	nucleotide-repeat-expansion
Green	CSTB_CCCCGCCCCGCG Hereditary ataxia with onset in adulthood STR	BIALLELIC, autosomal or pseudoautosomal	N/A	STR
Green	CSTB_CCCCGCCCCGCG Adult onset dystonia, chorea or related movement disorder STR	BIALLELIC, autosomal or pseudoautosomal	N/A	STR
Green	CTSA Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CTSF Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CWF19L1 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP27A1 Adult onset dystonia, chorea or related movement disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP27A1 Adult onset hereditary spastic paraplegia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP27A1 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP27A1 Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP2U1 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP7B1 Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP7B1 Adult onset hereditary spastic paraplegia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DARS Adult onset hereditary spastic paraplegia	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	DARS2 Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DARS2 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCAF17 Adult onset dystonia, chorea or related movement disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCTN1 Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DCTN1 Adult onset dystonia, chorea or related movement disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DDHD1 Adult onset hereditary spastic paraplegia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDHD2 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDHD2 Adult onset hereditary spastic paraplegia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJB2 Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJC19 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJC5 Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DNAJC5 Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DNAJC6 Adult onset dystonia, chorea or related movement disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJC6 Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJC7 Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	DNMT1 Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DNMT1 Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EIF2B1 Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B1 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B2 Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B2 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B3 Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B3 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B4 Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B4 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B5 Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B5 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ELOVL4 Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ELOVL4 Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EPM2A Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPM2A Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERBB4 Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ERCC4 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERLIN2 Adult onset hereditary spastic paraplegia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	EXOSC3 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXOSC9 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FA2H Adult onset hereditary spastic paraplegia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAT2 Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	FBXO7 Adult onset hereditary spastic paraplegia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBXO7 Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBXO7 Adult onset dystonia, chorea or related movement disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FGF14 Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FLVCR1 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FMR1_CGG Hereditary ataxia with onset in adulthood 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	FOLR1 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FTL Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FTL Adult onset dystonia, chorea or related movement disorder	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FUS Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FXN Adult onset hereditary spastic paraplegia	BIALLELIC, autosomal or pseudoautosomal	N/A	nucleotide-repeat-expansion
Green	FXN Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	nucleotide-repeat-expansion
Green	FXN_GAA Adult onset hereditary spastic paraplegia STR	BIALLELIC, autosomal or pseudoautosomal	N/A	STR
Green	FXN_GAA Hereditary ataxia with onset in adulthood STR	BIALLELIC, autosomal or pseudoautosomal	N/A	STR
Green	GALC Adult onset hereditary spastic paraplegia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GBA Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable, new-gene-name
Green	GBA Adult onset dystonia, chorea or related movement disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	GBA2 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GBA2 Adult onset hereditary spastic paraplegia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GBE1 Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GBE1 Adult onset hereditary spastic paraplegia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GCH1 Adult onset dystonia, chorea or related movement disorder	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GCH1 Adult onset hereditary spastic paraplegia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GCH1 Adult onset neurodegenerative disorder	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GDAP2 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFAP Adult onset dystonia, chorea or related movement disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GFAP Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GFAP Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GJA1 Adult onset hereditary spastic paraplegia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GJC2 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLA Adult onset neurodegenerative disorder	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	GLRA1 Hereditary ataxia with onset in adulthood	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GLRB Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNAL Adult onset dystonia, chorea or related movement disorder	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GOSR2 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GPAA1 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GRID2 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	Loss-of-function variants DO NOT cause this phenotype	Q1_26_MOI
Green	GRM1 Hereditary ataxia with onset in adulthood	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GRN Adult onset neurodegenerative disorder	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GRN Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GRN Adult onset dystonia, chorea or related movement disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GSN Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GTPBP2 Adult onset dystonia, chorea or related movement disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HEXA Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HEXA Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HEXB Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HEXB Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HNRNPA1 Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HPCA Adult onset dystonia, chorea or related movement disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HTRA1 Adult onset neurodegenerative disorder	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	HTT_CAG Adult onset neurodegenerative disorder STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	IRF2BPL Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ISCA-37446-Loss Adult onset neurodegenerative disorder 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-Gain Hereditary ataxia with onset in adulthood 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 Adult onset neurodegenerative disorder 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37478-Loss Hereditary ataxia with onset in adulthood 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ITM2B Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ITPR1 Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	JPH3_CTG Adult onset neurodegenerative disorder STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	JPH3_CTG Adult onset dystonia, chorea or related movement disorder STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	KCNA1 Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	treatable
Green	KCNA2 Adult onset hereditary spastic paraplegia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNA2 Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	KCNC3 Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KCNC3 Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KCND3 Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCND3 Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNJ10 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KCNQ2 Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KIAA1161 Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name, gene-checked
Green	KIAA1161 Adult onset dystonia, chorea or related movement disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name, gene-checked
Green	KIF1A Adult onset hereditary spastic paraplegia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	KIF1C Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIF1C Adult onset hereditary spastic paraplegia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIF5A Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KIF5A Adult onset hereditary spastic paraplegia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KMT2B Adult onset dystonia, chorea or related movement disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	LAMB1 Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRRK2 Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	missense, curated-variant-list
Green	LRRK2 Adult onset dystonia, chorea or related movement disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	LYST Adult onset dystonia, chorea or related movement disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LYST Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAPT Adult onset dystonia, chorea or related movement disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MAPT Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	treatable
Green	MARS2 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	cnv, gene-duplication
Green	MFN2 Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	MFSD8 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMACHC Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MRE11 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MSTO1 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MT-ATP6 Hereditary ataxia with onset in adulthood	MITOCHONDRIAL	N/A	gene-checked
Green	MTTP Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAA60 Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAA60 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEK1 Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NEU1 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NHLRC1 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NHLRC1 Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NIPA1 Adult onset hereditary spastic paraplegia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NKX2-1 Adult onset dystonia, chorea or related movement disorder	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NKX2-1 Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NKX6-2 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NOP56_GGCCTG Hereditary ataxia with onset in adulthood STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	NOP56_GGCCTG Adult onset neurodegenerative disorder STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	NOTCH3 Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NPC1 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPC1 Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPC2 Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPC2 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPTX1 Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	OPA1 Hereditary ataxia with onset in adulthood	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Other	N/A
Green	OPA3 Adult onset hereditary spastic paraplegia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OPA3 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OPHN1 Hereditary ataxia with onset in adulthood	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	OPTN Adult onset neurodegenerative disorder	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PACS2 Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	PANK2 Adult onset dystonia, chorea or related movement disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PANK2 Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PARK7 Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PARK7 Adult onset dystonia, chorea or related movement disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCYT2 Adult onset hereditary spastic paraplegia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDGFB Adult onset dystonia, chorea or related movement disorder	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PDGFB Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PDGFRB Adult onset dystonia, chorea or related movement disorder	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PDGFRB Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PEX16 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX6 Hereditary ataxia with onset in adulthood	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	PFN1 Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PINK1 Adult onset dystonia, chorea or related movement disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PINK1 Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLA2G6 Adult onset dystonia, chorea or related movement disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLA2G6 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLA2G6 Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLP1 Adult onset hereditary spastic paraplegia	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PMPCA Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMPCB Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNKD Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PNKD Adult onset dystonia, chorea or related movement disorder	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PNKP Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPLA6 Adult onset hereditary spastic paraplegia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPLA6 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLG Adult onset neurodegenerative disorder	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	POLG Hereditary ataxia with onset in adulthood	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	POLR3A Adult onset hereditary spastic paraplegia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLR3A Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPP2R2B_CAG Adult onset dystonia, chorea or related movement disorder STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	PPP2R2B_CAG Adult onset hereditary spastic paraplegia STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	PPP2R2B_CAG Hereditary ataxia with onset in adulthood STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	PPP2R5D Adult onset dystonia, chorea or related movement disorder	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PRDX3 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRKCG Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PRKN Adult onset dystonia, chorea or related movement disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRKN Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRKRA Adult onset dystonia, chorea or related movement disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRNP Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PRNP Adult onset hereditary spastic paraplegia	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	PRNP Adult onset dystonia, chorea or related movement disorder	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PRNP Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PRRT2 Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	treatable
Green	PRRT2 Adult onset dystonia, chorea or related movement disorder	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PSAP Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PSEN1 Adult onset hereditary spastic paraplegia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PSEN1 Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PSEN2 Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PTRH2 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PUM1 Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RAB32 Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	RAB39B Adult onset dystonia, chorea or related movement disorder	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	RAB3A Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RARS2 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	REEP1 Adult onset hereditary spastic paraplegia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RNF170 Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RNF216 Adult onset dystonia, chorea or related movement disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNF216 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNF216 Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ROBO3 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RTN2 Adult onset hereditary spastic paraplegia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SACS Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SACS Adult onset hereditary spastic paraplegia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SAMD9L Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	SCN1A Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SCN8A Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SEPSECS Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SETX Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SETX Adult onset neurodegenerative disorder	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SGCE Adult onset dystonia, chorea or related movement disorder	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	N/A	N/A
Green	SIL1 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC19A3 Adult onset dystonia, chorea or related movement disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC1A3 Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SLC20A2 Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SLC20A2 Adult onset dystonia, chorea or related movement disorder	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SLC25A15 Adult onset hereditary spastic paraplegia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A46 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC2A1 Hereditary ataxia with onset in adulthood	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	treatable
Green	SLC2A1 Adult onset dystonia, chorea or related movement disorder	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	SLC30A10 Adult onset dystonia, chorea or related movement disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC39A8 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC52A2 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC9A6 Hereditary ataxia with onset in adulthood	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	SNCA Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	gene-duplication
Green	SNCA Adult onset dystonia, chorea or related movement disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SNX14 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SOD1 Adult onset neurodegenerative disorder	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	treatable
Green	SPAST Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SPAST Adult onset hereditary spastic paraplegia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SPG11 Adult onset dystonia, chorea or related movement disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPG11 Adult onset hereditary spastic paraplegia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPG11 Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPG21 Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPG21 Adult onset hereditary spastic paraplegia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPG7 Hereditary ataxia with onset in adulthood	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	SPG7 Adult onset hereditary spastic paraplegia	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	SPG7 Adult onset neurodegenerative disorder	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	SPTAN1 Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SPTAN1 Adult onset hereditary spastic paraplegia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SPTBN2 Hereditary ataxia with onset in adulthood	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SPTLC1 Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	SPTLC2 Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	SQSTM1 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SQSTM1 Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SRD5A3 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SS18L1 Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	STUB1 Adult onset neurodegenerative disorder	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	STUB1 Hereditary ataxia with onset in adulthood	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SYNE1 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SYNGAP1 Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SYNJ1 Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SYNJ1 Adult onset dystonia, chorea or related movement disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TARDBP Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	polygenic
Green	TBK1 Adult onset dystonia, chorea or related movement disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TBK1 Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TBP_CAG Hereditary ataxia with onset in adulthood STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	TBP_CAG Adult onset neurodegenerative disorder STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	TBP_CAG Adult onset hereditary spastic paraplegia STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	TBP_CAG Adult onset dystonia, chorea or related movement disorder STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	TDP1 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	THAP1 Adult onset dystonia, chorea or related movement disorder	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TIMM8A Adult onset dystonia, chorea or related movement disorder	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	TMEM240 Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TMEM240 Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TOE1 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TOR1A Adult onset dystonia, chorea or related movement disorder	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TPP1 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TREM2 Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TREX1 Adult onset neurodegenerative disorder	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TSEN2 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSEN54 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTBK2 Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TTC19 Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTPA Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTR Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TUBA1A Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	TUBA4A Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TUBA4A Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TUBB2B Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	TUBB3 Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	TUBB4A Adult onset hereditary spastic paraplegia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TUBB4A Hereditary ataxia with onset in adulthood	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	TUBB4A Adult onset dystonia, chorea or related movement disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TWNK Hereditary ataxia with onset in adulthood	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TYROBP Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBA5 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBAP1 Adult onset hereditary spastic paraplegia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	UBQLN2 Adult onset neurodegenerative disorder	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	UCHL1 Adult onset hereditary spastic paraplegia	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	UCHL1 Hereditary ataxia with onset in adulthood	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	VAPB Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	VCP Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	VLDLR Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS13A Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS13A Adult onset dystonia, chorea or related movement disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS13D Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS16 Adult onset dystonia, chorea or related movement disorder	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	VPS35 Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense
Green	VPS35 Adult onset dystonia, chorea or related movement disorder	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	VPS53 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VRK1 Adult onset neurodegenerative disorder	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WASHC5 Adult onset hereditary spastic paraplegia	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	WDR45 Adult onset neurodegenerative disorder	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	WDR45 Adult onset dystonia, chorea or related movement disorder	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	WDR73 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR81 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WFS1 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WWOX Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XK Adult onset dystonia, chorea or related movement disorder	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 Adult onset neurodegenerative disorder	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 Adult onset neurodegenerative disorder	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	XPR1 Adult onset dystonia, chorea or related movement disorder	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ZFYVE26 Hereditary ataxia with onset in adulthood	BIALLELIC, autosomal or pseudoautosomal	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	ZFYVE26 Adult onset hereditary spastic paraplegia	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Adult-onset neurological disorders (Version: 9.3)

Adult-onset neurological disorders (Version: )