Genomics England

PYGM

glycogen phosphorylase, muscle associated

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Acute rhabdomyolysis R-numbers: R419 Signed-off version 1.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes McArdle disease, OMIM:232600
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 2.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes McArdle disease, OMIM:232600, Glycogen storage disease V, MONDO:0009293
Green in Glycogen storage disease R-numbers: R274 Signed-off version 1.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Glycogen storage disease V 232600
Green in Inborn errors of metabolism Component of the following Super Panels: - Hypotonic infant - Paediatric disorders - White matter disorders - childhood onset R-numbers: R98 Signed-off version 3.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Glycogen storage disease type V, McArdle (Glycogen storage disorders), McArdle disease 232600
Green in Limb girdle muscular dystrophy Component of the following Super Panels: - Hypotonic infant - Neuromuscular disorders R-numbers: R82 Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes McArdle disease, 232600
Green in Rhabdomyolysis and metabolic muscle disorders Component of the following Super Panels: - Hypotonic infant - Neuromuscular disorders Signed-off version 2.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Glycogen storage disease V McArdle disease 232600 AR
Green in Skeletal muscle channelopathy R-numbers: R76 Signed-off version 2.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes McArdle disease OMIM:232600