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  3. G6PC
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Possible mitochondrial disorder - nuclear genes

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

3 reviews

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: 1.37
Created: 23 Feb 2021, 6:05 p.m.
Last Modified: 23 Feb 2021, 6:05 p.m.
Panel version: 1.37

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease Ia, 232200

Created: 4 Feb 2019, 1:36 p.m.

Panel version: 0.5

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: Imported from Mitochondrial disorders panel version 0.484

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Glycogen storage disease Ia, OMIM:232200
Tags
new-gene-name
OMIM
613742
Clinvar variants
Variants in G6PC
Penetrance
None
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, 232200 to Glycogen storage disease Ia, OMIM:232200

23 Feb 2021, Gel status: 1

Added Tag

Catherine Snow (Genomics England)

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

4 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: G6PC was added gene: G6PC was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: G6PC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: G6PC were set to Glycogen storage disease Ia, 232200