PYGM

glycogen phosphorylase, muscle associated
OMIM: 608455
PanelMode of inheritanceDetails
7 panels
R-numbers: R419
Signed-off version 1.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
McArdle disease, OMIM:232600
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
McArdle disease, OMIM:232600, Glycogen storage disease V, MONDO:0009293
R-numbers: R274
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease V 232600
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
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
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
R-numbers: R76
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
McArdle disease OMIM:232600