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, adult onset
Neurodegenerative disorders, adult onset
Hereditary spastic paraplegia, adult onset
Dystonia, chorea or related movement disorder, adult onset

Signed off date: 12 Aug 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, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCD1 Neurodegenerative disorders, adult onset	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 Hereditary spastic paraplegia, adult onset	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, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACTB Dystonia, chorea or related movement disorder, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	ADAR Hereditary spastic paraplegia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADCY5 Hereditary ataxia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	AFG3L2 Hereditary ataxia, adult onset	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	AFG3L2 Neurodegenerative disorders, adult onset	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	AFG3L2 Dystonia, chorea or related movement disorder, adult onset	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH18A1 Hereditary spastic paraplegia, adult onset	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ALS2 Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANG Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ANO10 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANO3 Dystonia, chorea or related movement disorder, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ANXA11 Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	founder-effect
Green	AP5Z1 Hereditary spastic paraplegia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	APP Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	APTX Dystonia, chorea or related movement disorder, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	APTX Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AR_CAG Neurodegenerative disorders, adult onset 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, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSA Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSA Dystonia, chorea or related movement disorder, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSA Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATCAY Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATL1 Hereditary spastic paraplegia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATM Dystonia, chorea or related movement disorder, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATM Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATN1_CAG Dystonia, chorea or related movement disorder, adult onset STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATN1_CAG Neurodegenerative disorders, adult onset STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATN1_CAG Hereditary ataxia, adult onset STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATP13A2 Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP13A2 Hereditary spastic paraplegia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP13A2 Dystonia, chorea or related movement disorder, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP1A2 Hereditary ataxia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	treatable
Green	ATP1A2 Dystonia, chorea or related movement disorder, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ATP1A3 Hereditary ataxia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	treatable
Green	ATP1A3 Dystonia, chorea or related movement disorder, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ATP1A3 Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	treatable
Green	ATP7B Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	ATP7B Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	ATP7B Dystonia, chorea or related movement disorder, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATXN10_ATTCT Hereditary ataxia, adult onset STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATXN10_ATTCT Hereditary spastic paraplegia, adult onset STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATXN10_ATTCT Neurodegenerative disorders, adult onset STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATXN1_CAG Hereditary spastic paraplegia, adult onset STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATXN1_CAG Hereditary ataxia, adult onset STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATXN1_CAG Dystonia, chorea or related movement disorder, adult onset STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATXN2_CAG Neurodegenerative disorders, adult onset STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATXN2_CAG Hereditary spastic paraplegia, adult onset STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATXN2_CAG Dystonia, chorea or related movement disorder, adult onset STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATXN2_CAG Hereditary ataxia, adult onset STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATXN3_CAG Hereditary ataxia, adult onset STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATXN3_CAG Hereditary spastic paraplegia, adult onset STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATXN3_CAG Dystonia, chorea or related movement disorder, adult onset STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATXN7_CAG Neurodegenerative disorders, adult onset STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATXN7_CAG Hereditary spastic paraplegia, adult onset STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATXN7_CAG Hereditary ataxia, adult onset STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	AUH Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AUH Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GALNT2 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GALNT1 Hereditary spastic paraplegia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BICD2 Hereditary spastic paraplegia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	BRF1 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BSCL2 Hereditary spastic paraplegia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	C19orf12 Neurodegenerative disorders, adult onset	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	C19orf12 Hereditary spastic paraplegia, adult onset	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	C19orf12 Dystonia, chorea or related movement disorder, adult onset	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	C9orf72_GGGGCC Neurodegenerative disorders, adult onset STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	C9orf72_GGGGCC Dystonia, chorea or related movement disorder, adult onset STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	CA8 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA1A Hereditary ataxia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	nucleotide-repeat-expansion, treatable
Green	CACNA1A Dystonia, chorea or related movement disorder, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CACNA1A_CAG Hereditary spastic paraplegia, adult onset STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	CACNA1A_CAG Neurodegenerative disorders, adult onset STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	CACNA1A_CAG Hereditary ataxia, adult onset STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	CACNA1A_CAG Dystonia, chorea or related movement disorder, adult onset STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	CACNA1G Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	CACNA1G Hereditary ataxia, adult onset	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	CAMTA1 Hereditary ataxia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CAPN1 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CAPN1 Hereditary spastic paraplegia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CASK Hereditary ataxia, adult onset	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 Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHCHD10 Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHCHD2 Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHMP2B Dystonia, chorea or related movement disorder, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHMP2B Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CLCN2 Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLCN2 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN6 Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN6 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COA7 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COASY Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COASY Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG5 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL4A1 Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COL4A2 Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COQ4 Hereditary spastic paraplegia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ4 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ8A Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX20 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CP Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CP Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CP Dystonia, chorea or related movement disorder, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPT1C Hereditary spastic paraplegia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CSF1R Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	adult-onset
Green	CSF1R Dystonia, chorea or related movement disorder, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CSTB Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	nucleotide-repeat-expansion
Green	CSTB_CCCCGCCCCGCG Hereditary ataxia, adult onset STR	BIALLELIC, autosomal or pseudoautosomal	N/A	STR
Green	CSTB_CCCCGCCCCGCG Dystonia, chorea or related movement disorder, adult onset STR	BIALLELIC, autosomal or pseudoautosomal	N/A	STR
Green	CTSA Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CTSF Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CWF19L1 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP27A1 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP27A1 Hereditary spastic paraplegia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP27A1 Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP27A1 Dystonia, chorea or related movement disorder, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP2U1 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP7B1 Hereditary spastic paraplegia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP7B1 Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DARS Hereditary spastic paraplegia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	DARS2 Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DARS2 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCAF17 Dystonia, chorea or related movement disorder, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCTN1 Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DCTN1 Dystonia, chorea or related movement disorder, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DDHD1 Hereditary spastic paraplegia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDHD2 Hereditary spastic paraplegia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDHD2 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJB2 Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJC19 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJC5 Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DNAJC5 Hereditary ataxia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DNAJC6 Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJC6 Dystonia, chorea or related movement disorder, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJC7 Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	DNMT1 Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DNMT1 Hereditary ataxia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EIF2B1 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B1 Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B2 Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B2 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B3 Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B3 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B4 Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B4 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B5 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B5 Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ELOVL4 Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ELOVL4 Hereditary ataxia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EPM2A Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPM2A Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERBB4 Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ERCC4 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERLIN2 Hereditary spastic paraplegia, adult onset	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	EXOSC3 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXOSC9 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FA2H Hereditary spastic paraplegia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAT2 Hereditary ataxia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	FBXO7 Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBXO7 Dystonia, chorea or related movement disorder, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBXO7 Hereditary spastic paraplegia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FGF14 Hereditary ataxia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FLVCR1 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FMR1_CGG Hereditary ataxia, adult onset 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, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FTL Dystonia, chorea or related movement disorder, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FTL Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FUS Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FXN Hereditary spastic paraplegia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	nucleotide-repeat-expansion
Green	FXN Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	nucleotide-repeat-expansion
Green	FXN_GAA Hereditary spastic paraplegia, adult onset STR	BIALLELIC, autosomal or pseudoautosomal	N/A	STR
Green	FXN_GAA Hereditary ataxia, adult onset STR	BIALLELIC, autosomal or pseudoautosomal	N/A	STR
Green	GALC Hereditary spastic paraplegia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GBA Dystonia, chorea or related movement disorder, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	GBA Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable, new-gene-name
Green	GBA2 Hereditary spastic paraplegia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GBA2 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GBE1 Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GBE1 Hereditary spastic paraplegia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GCH1 Neurodegenerative disorders, adult onset	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GCH1 Dystonia, chorea or related movement disorder, adult onset	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GCH1 Hereditary spastic paraplegia, adult onset	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GDAP2 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFAP Hereditary ataxia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GFAP Dystonia, chorea or related movement disorder, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GFAP Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GJA1 Hereditary spastic paraplegia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GJC2 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLA Neurodegenerative disorders, adult onset	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, adult onset	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GLRB Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNAL Dystonia, chorea or related movement disorder, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GOSR2 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GPAA1 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GRID2 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	Loss-of-function variants DO NOT cause this phenotype	Q1_26_MOI
Green	GRM1 Hereditary ataxia, adult onset	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GRN Dystonia, chorea or related movement disorder, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GRN Neurodegenerative disorders, adult onset	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GRN Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GSN Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GTPBP2 Dystonia, chorea or related movement disorder, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HEXA Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HEXA Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HEXB Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HEXB Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HNRNPA1 Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HPCA Dystonia, chorea or related movement disorder, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HTRA1 Neurodegenerative disorders, adult onset	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	HTT_CAG Neurodegenerative disorders, adult onset STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	IRF2BPL Hereditary ataxia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ISCA-37446-Loss Neurodegenerative disorders, adult onset 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, adult onset 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 Neurodegenerative disorders, adult onset 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, adult onset 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ITM2B Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ITPR1 Hereditary ataxia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	JPH3_CTG Neurodegenerative disorders, adult onset STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	JPH3_CTG Dystonia, chorea or related movement disorder, adult onset STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	KCNA1 Hereditary ataxia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	treatable
Green	KCNA2 Hereditary spastic paraplegia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNA2 Hereditary ataxia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	KCNC3 Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KCNC3 Hereditary ataxia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KCND3 Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCND3 Hereditary ataxia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNJ10 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KCNQ2 Hereditary ataxia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KIAA1161 Dystonia, chorea or related movement disorder, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name, gene-checked
Green	KIAA1161 Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name, gene-checked
Green	KIF1A Hereditary spastic paraplegia, adult onset	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	KIF1C Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIF1C Hereditary spastic paraplegia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIF5A Hereditary spastic paraplegia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KIF5A Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KMT2B Dystonia, chorea or related movement disorder, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	LAMB1 Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRRK2 Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	missense, curated-variant-list
Green	LRRK2 Dystonia, chorea or related movement disorder, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	LYST Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LYST Dystonia, chorea or related movement disorder, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAPT Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	treatable
Green	MAPT Dystonia, chorea or related movement disorder, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MARS2 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	cnv, gene-duplication
Green	MFN2 Hereditary ataxia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	MFSD8 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMACHC Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MRE11 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MSTO1 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MT-ATP6 Hereditary ataxia, adult onset	MITOCHONDRIAL	N/A	gene-checked
Green	MTTP Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAA60 Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAA60 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEK1 Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NEU1 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NHLRC1 Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NHLRC1 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NIPA1 Hereditary spastic paraplegia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NKX2-1 Hereditary ataxia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NKX2-1 Dystonia, chorea or related movement disorder, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NKX6-2 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NOP56_GGCCTG Hereditary ataxia, adult onset STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	NOP56_GGCCTG Neurodegenerative disorders, adult onset STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	NOTCH3 Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	Q2_26_MOI
Green	NPC1 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPC1 Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPC2 Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPC2 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPTX1 Hereditary ataxia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	OPA1 Hereditary ataxia, adult onset	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Other	N/A
Green	OPA3 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OPA3 Hereditary spastic paraplegia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OPHN1 Hereditary ataxia, adult onset	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 Neurodegenerative disorders, adult onset	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PACS2 Hereditary ataxia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	PANK2 Dystonia, chorea or related movement disorder, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PANK2 Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PARK7 Dystonia, chorea or related movement disorder, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PARK7 Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCYT2 Hereditary spastic paraplegia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDGFB Dystonia, chorea or related movement disorder, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PDGFB Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PDGFRB Dystonia, chorea or related movement disorder, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PDGFRB Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PEX16 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX6 Hereditary ataxia, adult onset	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	PFN1 Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PINK1 Dystonia, chorea or related movement disorder, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PINK1 Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLA2G6 Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLA2G6 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLA2G6 Dystonia, chorea or related movement disorder, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLP1 Hereditary spastic paraplegia, adult onset	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PMPCA Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMPCB Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNKD Dystonia, chorea or related movement disorder, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PNKD Hereditary ataxia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PNKP Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPLA6 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPLA6 Hereditary spastic paraplegia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLG Hereditary ataxia, adult onset	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	POLG Neurodegenerative disorders, adult onset	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	POLR3A Hereditary spastic paraplegia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLR3A Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPP2R2B_CAG Dystonia, chorea or related movement disorder, adult onset STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	PPP2R2B_CAG Hereditary spastic paraplegia, adult onset STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	PPP2R2B_CAG Hereditary ataxia, adult onset STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	PPP2R5D Dystonia, chorea or related movement disorder, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PRDX3 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRKCG Hereditary ataxia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PRKN Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRKN Dystonia, chorea or related movement disorder, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRKRA Dystonia, chorea or related movement disorder, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRNP Dystonia, chorea or related movement disorder, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PRNP Hereditary ataxia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PRNP Hereditary spastic paraplegia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	PRNP Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PRRT2 Hereditary ataxia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	treatable
Green	PRRT2 Dystonia, chorea or related movement disorder, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PSAP Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PSEN1 Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PSEN1 Hereditary spastic paraplegia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PSEN2 Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PTRH2 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PUM1 Hereditary ataxia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RAB32 Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	RAB39B Dystonia, chorea or related movement disorder, adult onset	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, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RARS2 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	REEP1 Hereditary spastic paraplegia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RNF170 Hereditary ataxia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RNF216 Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNF216 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNF216 Dystonia, chorea or related movement disorder, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ROBO3 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RTN2 Hereditary spastic paraplegia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SACS Hereditary spastic paraplegia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SACS Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SAMD9L Hereditary ataxia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	SCN1A Hereditary ataxia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SCN8A Hereditary ataxia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SEPSECS Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SETX Neurodegenerative disorders, adult onset	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SETX Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGCE Dystonia, chorea or related movement disorder, adult onset	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	N/A	N/A
Green	SIL1 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC19A3 Dystonia, chorea or related movement disorder, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC1A3 Hereditary ataxia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SLC20A2 Dystonia, chorea or related movement disorder, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SLC20A2 Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SLC25A15 Hereditary spastic paraplegia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A46 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC2A1 Dystonia, chorea or related movement disorder, adult onset	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	SLC2A1 Hereditary ataxia, adult onset	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	treatable
Green	SLC30A10 Dystonia, chorea or related movement disorder, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC39A8 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC52A2 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC9A6 Hereditary ataxia, adult onset	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 Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	gene-duplication
Green	SNCA Dystonia, chorea or related movement disorder, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	SNX14 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SOD1 Neurodegenerative disorders, adult onset	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	treatable
Green	SPAST Hereditary spastic paraplegia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SPAST Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SPG11 Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPG11 Hereditary spastic paraplegia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPG11 Dystonia, chorea or related movement disorder, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPG21 Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPG21 Hereditary spastic paraplegia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPG7 Neurodegenerative disorders, adult onset	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 Hereditary ataxia, adult onset	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 Hereditary spastic paraplegia, adult onset	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 spastic paraplegia, adult onset	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SPTAN1 Hereditary ataxia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SPTBN2 Hereditary ataxia, adult onset	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SPTLC1 Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	SPTLC2 Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	SQSTM1 Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SQSTM1 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SRD5A3 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SS18L1 Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	STUB1 Hereditary ataxia, adult onset	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	STUB1 Neurodegenerative disorders, adult onset	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SYNE1 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SYNGAP1 Hereditary ataxia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SYNJ1 Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SYNJ1 Dystonia, chorea or related movement disorder, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TARDBP Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	polygenic
Green	TBK1 Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TBK1 Dystonia, chorea or related movement disorder, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TBP_CAG Hereditary ataxia, adult onset STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	TBP_CAG Neurodegenerative disorders, adult onset STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	TBP_CAG Hereditary spastic paraplegia, adult onset STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	TBP_CAG Dystonia, chorea or related movement disorder, adult onset STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	TDP1 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	THAP1 Dystonia, chorea or related movement disorder, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TIMM8A Dystonia, chorea or related movement disorder, adult onset	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	Q3_26_MOI
Green	TMEM240 Hereditary ataxia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TMEM240 Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TOE1 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TOR1A Dystonia, chorea or related movement disorder, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TPP1 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TREM2 Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TREX1 Neurodegenerative disorders, adult onset	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TSEN2 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSEN54 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTBK2 Hereditary ataxia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TTC19 Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTPA Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTR Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TUBA1A Hereditary ataxia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	TUBA4A Hereditary ataxia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TUBA4A Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TUBB2B Hereditary ataxia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	TUBB3 Hereditary ataxia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	TUBB4A Dystonia, chorea or related movement disorder, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TUBB4A Hereditary ataxia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	TUBB4A Hereditary spastic paraplegia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TWNK Hereditary ataxia, adult onset	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TYROBP Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBA5 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBAP1 Hereditary spastic paraplegia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	UBQLN2 Neurodegenerative disorders, adult onset	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 Hereditary ataxia, adult onset	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	UCHL1 Hereditary spastic paraplegia, adult onset	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	VAPB Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	VCP Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	VLDLR Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS13A Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS13A Dystonia, chorea or related movement disorder, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS13D Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS16 Dystonia, chorea or related movement disorder, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	VPS35 Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense
Green	VPS35 Dystonia, chorea or related movement disorder, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	VPS53 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VRK1 Neurodegenerative disorders, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WASHC5 Hereditary spastic paraplegia, adult onset	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	WDR45 Dystonia, chorea or related movement disorder, adult onset	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 Neurodegenerative disorders, adult onset	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, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR81 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WFS1 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WWOX Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XK Dystonia, chorea or related movement disorder, adult onset	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 Neurodegenerative disorders, adult onset	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 Neurodegenerative disorders, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	XPR1 Dystonia, chorea or related movement disorder, adult onset	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ZFYVE26 Hereditary ataxia, adult onset	BIALLELIC, autosomal or pseudoautosomal	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	ZFYVE26 Hereditary spastic paraplegia, adult onset	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Adult-onset neurological disorders (Version: 9.199.3)

Adult-onset neurological disorders (Version: )