AGL

amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
OMIM: 610860
PanelMode of inheritanceDetails
6 panels
R-numbers: R135
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypertrophic-hypocontractile cardiomyopathy, Glycogen storage disease type IIIa (debrancher enzyme deficiency), syndromic HCM, Glycogen storage disease IIIb, 232400, myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance, Ketotic hypoglycaemia, hyperlipidaemia, raised transaminases, Glycogen Storage Disease, Glycogen Storage Disease Type III, Glycogen storage disease IIIa, 232400, Glycogen Storage Disorders- Liver, Glycogen Storage Disorders- Muscle, Glycogen storage disease type III, Cori (Glycogen storage disorders), HCM
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GLYCOGEN STORAGE DISEASE TYPE III 232400
R-numbers: R21
Signed-off version 1.92
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 2.3
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 1.34
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease IIIa 232400, Glycogen storage disease IIIb 232400