AGL

amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
OMIM: 610860
PanelMode of inheritanceDetails
6 panels
R-numbers: R419
Signed-off version 1.1
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 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GLYCOGEN STORAGE DISEASE TYPE III 232400
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GLYCOGEN STORAGE DISEASE TYPE III
R-numbers: R274
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease IIIb, 232400, Glycogen storage disease IIIa, 232400
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 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
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease IIIa 232400, Glycogen storage disease IIIb 232400