GBE1

1,4-alpha-glucan branching enzyme 1
OMIM: 607839
PanelMode of inheritanceDetails
7 panels
R-numbers: R83
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease IV 232500
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease IV, Polyglucosan body disease, adult form, Fetal akinesia deformation sequence
R-numbers: R274
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease IV 232500
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 IV, 232500, Glycogen Storage Disease, Glycogen Storage Disorders- Liver, Glycogen storage disease type IV, Andersen (Glycogen storage disorders), Glycogen Storage Disorders- Muscle, Glycogen Storage Disease Type IV, failure to thrive in addition to hepatomegaly van have neuromuscular adult form ( polyglucosan body ideas which presents with neurogenic bladder, gait difficulties, Polyglucosan body disease, adult form, 263570
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 1.34
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease IV 232500
R-numbers: R62
Signed-off version 1.25
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polyglucosan body disease, adult form, 263570
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy, Polyglucosan body disease, adult form, Polyglucosan Body Disease (PGBD)