Genomics England
GMS Panels
Panels
Genes and Entities

PYGM

glycogen phosphorylase, muscle associated
OMIM: 608455
PanelMode of inheritanceDetails
9 panels
Green
in Acute rhabdomyolysis
R-numbers: R419
Signed-off version 1.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
McArdle disease, OMIM:232600
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
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 2.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease V 232600
Green
in Glycogen storage disease V
R-numbers: R273
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease type V, McArdle (Glycogen storage disorders), McArdle disease 232600
Green
in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R82
Signed-off version 4.37
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
McArdle disease, 232600
Green
in Retinal disorders
R-numbers: R32
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
macular dystrophy, retinal, MONDO:0031166
Green
in Rhabdomyolysis and metabolic muscle disorders
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 5.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease V McArdle disease 232600 AR
Green
in Skeletal muscle channelopathy
R-numbers: R76
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
McArdle disease OMIM:232600