GBE1

1,4-alpha-glucan branching enzyme 1
OMIM: 607839
PanelMode of inheritanceDetails
10 panels
R-numbers: R419
Signed-off version 1.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease IV, OMIM:232500
R-numbers: R83
Signed-off version 4.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease IV, OMIM:232500
Green
in Cholestasis
R-numbers: R171
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease IV, OMIM:232500
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease IV, OMIM:232500, Fetal akinesia deformation sequence
R-numbers: R274
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease IV 232500
R-numbers: R60
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polyglucosan body disease, adult form, OMIM:263570
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 IV, OMIM:232500, Polyglucosan body disease, adult form, OMIM:263570
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease IV, OMIM:232500
R-numbers: R62
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polyglucosan body disease, adult form, OMIM:263570
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polyglucosan body disease, adult form, OMIM:263570, General Leukodystrophy & Mitochondrial Leukoencephalopathy