Mitochondrial disorders
Gene: G6PCThe rating of this gene has been updated from Amber to Red following NHS Genomic Medicine Service approval.Created: 29 Jul 2022, 1:47 p.m. | Last Modified: 29 Jul 2022, 1:47 p.m.
Panel Version: 2.109
Added new-gene-name tag, new approved HGNC gene symbol for G6PC is G6PC1Created: 23 Feb 2021, 6:05 p.m. | Last Modified: 23 Feb 2021, 6:05 p.m.
Panel Version: 2.19
Not a mitochondrial disorder. It is Red on the other mito panel.Created: 20 Mar 2020, 6:40 a.m. | Last Modified: 20 Mar 2020, 6:41 a.m.
Panel Version: 2.5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease Ia, MIM# 232200
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 Ia to Glycogen storage disease Ia, OMIM:232200
Source Expert Review Red was added to G6PC. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Tag new-gene-name tag was added to gene: G6PC.
This gene has been classified as Amber List (Moderate Evidence).
G6PC was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert Review
G6PC was created by ellenmcdonagh