Added new-gene-name tag, new approved HGNC gene symbol for G6PC is G6PC1
Created: 23 Feb 2021, 6:02 p.m. | Last Modified: 23 Feb 2021, 6:02 p.m.
Panel Version: 1.8
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Glucose-6-phosphatase deficiency, Glycogen storage disease type 1a
Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.
Created: 5 Nov 2015, 5:19 p.m.
Tag new-gene-name tag was added to gene: G6PC.
Promoted to version 1 on 22nd November 2016
G6PC was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory