Genomics England

Lysosomal storage disorder (Version: )

There is a more recent signed-off version of this panel

Relevant disorders: R276

Signed off date: 18 Feb 2020

Panel types: GMS Rare Disease, GMS signed-off

50 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	AGA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASAH1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTNS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJC5	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FUCA1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GAA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALNS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GBA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLA	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	GLB1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GM2A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNE	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPTAB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPTG	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GUSB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HEXA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HEXB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HGSNAT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HYAL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IDS	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	IDUA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMP2	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	LIPA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAN2B1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MANBA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCOLN1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MFSD8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAGA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAGLU	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEU1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPC2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PSAP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGSH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC17A5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMPD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUMF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TPP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Lysosomal storage disorder (Version: 3.02.01.2)

Lysosomal storage disorder (Version: )