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  2. Ketotic hypoglycaemia
  3. G6PC
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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 8 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
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

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

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
  • Glycogen storage disease Ia, OMIM:232200
Tags
new-gene-name
OMIM
613742
Clinvar variants
Variants in G6PC
Penetrance
Complete
Panels with this gene

History Filter Activity

12 Mar 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: G6PC were changed from 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 to Glycogen storage disease Ia, OMIM:232200

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