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Prepair 1000+

Gene: GBE1

Green List (high evidence)
GBE1 (1,4-alpha-glucan branching enzyme 1)
EnsemblGeneIds (GRCh38): ENSG00000114480
EnsemblGeneIds (GRCh37): ENSG00000114480
OMIM: 607839, Gene2Phenotype
GBE1 is in 20 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

GSD IV span a continuum of different subtypes with variable ages of onset, severity, and clinical features (GeneReviews).

The typical 'classic' hepatic presentation is liver disease of childhood, progressing to lethal cirrhosis. The neuromuscular presentation of GSD IV is distinguished by age at onset into 4 groups: perinatal, presenting as fetal akinesia deformation sequence (FADS) and perinatal death; congenital, with hypotonia, neuronal involvement, and death in early infancy; childhood, with myopathy or cardiomyopathy; and adult, with isolated myopathy or adult polyglucosan body disease (OMIM)

Residual enzyme activity predicts phenotypic outcome
Created: 22 Jan 2025, 10:49 p.m. | Last Modified: 22 Jan 2025, 10:49 p.m.
Panel Version: 1.1257

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease IV, MIM#232500

Created: 22 Jan 2025, 10:49 p.m.
Last Modified: 22 Jan 2025, 10:49 p.m.
Panel version: 1.1257

History Filter Activity

23 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gbe1 has been classified as Green List (High Evidence).

23 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GBE1 were changed from Glycogen storage disease IV, 232500 (3) to Glycogen storage disease IV, MIM#232500

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Glycogen storage disease IV, 232500 (3) for gene: GBE1

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GBE1 was added gene: GBE1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GBE1 were set to Glycogen storage disease IV, 232500 (3)