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  3. GBE1
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Fetal anomalies

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 23 panels

2 reviews

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fetal akinesia deformation sequence

Publications

Created: 12 Jul 2019, 1:28 p.m.
Last Modified: 12 Jul 2019, 1:28 p.m.
Panel version: 0.298

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed.
Created: 11 Dec 2018, 9:05 a.m.
Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.134

History Filter Activity

26 Aug 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: GBE1 were changed from Glycogen storage disease IV; Polyglucosan body disease, adult form; Fetal akinesia deformation sequence to Glycogen storage disease IV, OMIM:232500; Fetal akinesia deformation sequence

16 Jul 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: GBE1 were set to

12 Jul 2019, Gel status: 3

Set Phenotypes

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

Phenotypes for gene: GBE1 were changed from Glycogen storage disease IV; Polyglucosan body disease, adult form to Glycogen storage disease IV; Polyglucosan body disease, adult form; Fetal akinesia deformation sequence

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes Polyglucosan body disease, adult form for gene: GBE1

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: GBE1 was added gene: GBE1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GBE1 were set to Glycogen storage disease IV