Genomics England

Glycogen storage disease (Version: )

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

Relevant disorders: R274

Signed off date: 18 Feb 2020

Panel types: GMS Rare Disease, GMS signed-off

28 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	AGL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDOA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDOB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ENO3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPM2A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	G6PC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GAA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GBE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GYG1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GYS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GYS2	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	LDHA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NHLRC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PFKM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGAM2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGK1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PGM1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PHKA1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PHKA2	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PHKB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PHKG2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRKAG2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PYGL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PYGM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC2A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC37A4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Glycogen storage disease (Version: 2.01.2)

Glycogen storage disease (Version: )