Genomics England

Childhood onset hereditary spastic paraplegia (Version: )

Relevant disorders: Hereditary spastic paraplegia - childhood onset, R61

Signed off date: 22 Mar 2023

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

98 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	ABHD16A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACER3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AFG3L2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	AIMP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH18A1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH3A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP4B1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP4E1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP4M1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP4S1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP5Z1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARG1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL6IP1	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	B4GALNT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCAS3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BSCL2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	C12orf65	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C19orf12	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CAPN1	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	CYP2U1	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	ELOVL1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	missense
Green	ENTPD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERLIN1	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	FAR1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FARS2	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	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	GLRX5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GPT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HACE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HIKESHI	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HPDL	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	HSPD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFIH1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ISCA-46304-Gain Xq28 region (includes MECP2) Gain region	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	KCNA2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KDM5C	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	KIDINS220	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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, NOT imprinted	N/A	N/A
Green	KPNA3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	L1CAM	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	MAPK8IP3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NDUFA12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NIPA1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NKX6-2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NSRP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NT5C2	BIALLELIC, autosomal or pseudoautosomal	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	REEP1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	REEP2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RNASEH2B	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	RNU7-1	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	RTN2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SACS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SERAC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC16A2	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SLC1A4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A15	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC2A1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SPART	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPAST	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SPATA5L1	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	SPG11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPG21	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPG7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STN1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAF8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TFG	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM63C	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
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	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WASHC5	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	WDR45B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZFYVE26	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Childhood onset hereditary spastic paraplegia (Version: 4.03.02.18)

Childhood onset hereditary spastic paraplegia (Version: )