Ketotic hypoglycaemia

Gene: G6PC

Green List (high evidence)

G6PC (glucose-6-phosphatase catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000131482
EnsemblGeneIds (GRCh37): ENSG00000131482
OMIM: 613742, Gene2Phenotype
G6PC is in 9 panels

2 reviews

Catherine Snow (Genomics England)

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: 1.4

Alexander Broomfield (Central Manchester Foundation Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • fasting intolerance with enlarged liver, renal tubular disease
  • Glycogen storage disease Ia, 232200
  • Glycogen Storage Disease Type I
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disease
  • Glycogen Storage Disease Ia
Tags
new-gene-name
OMIM
613742
Clinvar variants
Variants in G6PC
Penetrance
Complete
Panels with this gene

History Filter Activity

23 Feb 2021, Gel status: 3

Added Tag

Catherine Snow (Genomics England)

Tag new-gene-name tag was added to gene: G6PC.

6 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Oct 2015, Gel status: 4

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

19 Oct 2015, Gel status: 0

Added New Source

Alexander Broomfield (Central Manchester Foundation Trust)

G6PC was added to Ketotic hypoglycaemiapanel. Sources: Literature