Genomics England
GMS Panels
Panels
Genes and Entities

PGAM2

phosphoglycerate mutase 2
OMIM: 612931
PanelMode of inheritanceDetails
4 panels
Green
in Acute rhabdomyolysis
R-numbers: R419
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease X, OMIM:261670
Green
in Glycogen storage disease
R-numbers: R274
Signed-off version 2.8
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease X 261670
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 9.29
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease X 261670
Green
in Rhabdomyolysis and metabolic muscle disorders
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 6.8
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease X 261670