Genomics England
GMS Panels
Panels
Genes and Entities

PYGL

glycogen phosphorylase L
OMIM: 613741
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GLYCOGEN STORAGE DISEASE TYPE VI 232700
Green
in Glycogen storage disease
R-numbers: R274
Signed-off version 2.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease VI 232700
Green
in Likely inborn error of metabolism - targeted testing not possible
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 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen Storage Disease, Glycogen Storage Disorders- Liver, Glycogen storage disease VI, 232700, hepatomegaly and mild hypoglycaemia, Glycogen Storage Disease Type VI, Glycogen storage disease type VI, Hers (Glycogen storage disorders)