Genomics England
GMS Panels
Panels
Genes and Entities

AGL

amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
OMIM: 610860
PanelMode of inheritanceDetails
6 panels
Green
in Acute rhabdomyolysis
R-numbers: R419
Signed-off version 1.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease IIIb, OMIM:232400, Glycogen storage disease IIIa, OMIM:232400
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GLYCOGEN STORAGE DISEASE TYPE III 232400
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GLYCOGEN STORAGE DISEASE TYPE III
Green
in Glycogen storage disease
R-numbers: R274
Signed-off version 2.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease IIIb, 232400, Glycogen storage disease IIIa, 232400
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 III, Cori (Glycogen storage disorders), Glycogen storage disease IIIb, 232400, Glycogen Storage Disorders- Liver, Glycogen Storage Disease, myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance, Glycogen Storage Disease Type III, Glycogen Storage Disorders- Muscle, Glycogen storage disease IIIa, 232400
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 IIIa 232400, Glycogen storage disease IIIb 232400