Likely inborn error of metabolism - targeted testing not possible
Gene: G6PCAdded new-gene-name tag, new approved HGNC gene symbol for G6PC is G6PC1Created: 23 Feb 2021, 6:04 p.m. | Last Modified: 23 Feb 2021, 6:04 p.m.
Panel Version: 2.101
Gene added by Shamima Rahman (UCL Institute of Child Health).Created: 2 Mar 2016, 2:43 p.m.
Phenotypes for gene: G6PC were changed from Glycogen Storage Disease Type I; Glycogen Storage Disorders- Liver; Glycogen Storage Disease; Glycogen Storage Disease Ia; Glycogen storage disease Ia, 232200; Glycogen storage disease type 1a, von Gierke (Glycogen storage disorders); Glycogen storage disease Ia; fasting intolerance with enlarged liver, renal tubular disease to Glycogen storage disease Ia, OMIM:232200
Tag new-gene-name tag was added to gene: G6PC.
Source NHS GMS was added to G6PC. Source London North GLH was added to G6PC.
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Added phenotypes Glycogen storage disease Ia for gene: G6PC
gene: G6PC was added gene: G6PC was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: G6PC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: G6PC were set to 27604308 Phenotypes for gene: G6PC were set to Glycogen Storage Disease Type I; Glycogen Storage Disorders- Liver; Glycogen Storage Disease; Glycogen Storage Disease Ia; Glycogen storage disease Ia, 232200; Glycogen storage disease type 1a, von Gierke (Glycogen storage disorders); fasting intolerance with enlarged liver, renal tubular disease