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Mitochondrial disorders

Gene: G6PC

Red List (low evidence)
G6PC (glucose-6-phosphatase catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000131482
EnsemblGeneIds (GRCh37): ENSG00000131482
OMIM: 613742, Gene2Phenotype
G6PC is in 8 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

The 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
Created: 29 Jul 2022, 1:47 p.m.
Last Modified: 29 Jul 2022, 1:47 p.m.
Panel version: 2.109

Catherine Snow (Genomics England)

Added new-gene-name tag, new approved HGNC gene symbol for G6PC is G6PC1
Created: 23 Feb 2021, 6:05 p.m. | Last Modified: 23 Feb 2021, 6:05 p.m.
Panel Version: 2.19
Created: 23 Feb 2021, 6:05 p.m.
Last Modified: 23 Feb 2021, 6:05 p.m.
Panel version: 2.19

Zornitza Stark (Australian Genomics)

Red List (low evidence)

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

Created: 20 Mar 2020, 6:40 a.m.
Last Modified: 20 Mar 2020, 6:41 a.m.
Panel version: 2.5

Ellen McDonagh (Genomics England Curator)

Gene added by Shamima Rahman (UCL Institute of Child Health).
Created: 2 Mar 2016, 2:43 p.m.
Created: 2 Mar 2016, 2:43 p.m.

Panel version: 0.484

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review
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: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

29 Jul 2022, Gel status: 1

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Red was added to G6PC. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

23 Feb 2021, Gel status: 2

Added Tag

Catherine Snow (Genomics England)

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

2 Mar 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

2 Mar 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

G6PC was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert Review

2 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

G6PC was created by ellenmcdonagh