GAA

glucosidase alpha, acid
OMIM: 606800
PanelMode of inheritanceDetails
8 panels
R-numbers: R135
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypotonia, muscle weakness, progressive respiratory failure, syndromic HCM, HCM, mixed, Glycogen storage disease II, 232300, Glycogen storage disease type II (Pompe disease)
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 II 232300
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GLYCOGEN STORAGE DISEASE TYPE II
R-numbers: R274
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease II 232300
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 II, 232300
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R82
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease II 232300
R-numbers: R276
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease II 232300
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 1.34
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease II 232300