Genomics England

Adult onset hereditary spastic paraplegia (Version: )

Relevant disorders: Hereditary spastic paraplegia - adult onset, R60

Signed off date: 7 Aug 2024

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

61 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ABCD1	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ADAR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH18A1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	AP5Z1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATL1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATP13A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATXN10_ATTCT STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATXN1_CAG STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATXN2_CAG STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATXN3_CAG STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	ATXN7_CAG STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	B4GALNT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BSCL2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	C19orf12	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA1A_CAG STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	CAPN1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPT1C	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CYP27A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP7B1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DARS	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	DDHD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDHD2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERLIN2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FA2H	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBXO7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FXN	BIALLELIC, autosomal or pseudoautosomal	N/A	nucleotide-repeat-expansion
Green	FXN_GAA STR	BIALLELIC, autosomal or pseudoautosomal	N/A	STR
Green	GALC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GBA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GBE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GCH1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GJA1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNA2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KIF1A	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	KIF1C	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIF5A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NIPA1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	OPA3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCYT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLP1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PNPLA6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLR3A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPP2R2B_CAG STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	PRNP	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	PSEN1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	REEP1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RTN2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SACS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A15	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPAST	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SPG11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPG21	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPG7	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	SPTAN1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TBP_CAG STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	TUBB4A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	UBAP1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	UCHL1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	WASHC5	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZFYVE26	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Adult onset hereditary spastic paraplegia (Version: 5.04.03.143.02.01.271.12)

Adult onset hereditary spastic paraplegia (Version: )