1. Panels
  2. Newborns main panel
  3. G6PC
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Newborns main panel

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

1 review

Mafalda Gomes (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for G6PC is G6PC1
Created: 25 Oct 2023, 9:01 a.m. | Last Modified: 25 Oct 2023, 9:01 a.m.
Panel Version: 0.250
The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:39 p.m. | Last Modified: 1 Jun 2023, 2:39 p.m.
Panel Version: 0.137
https://pubmed.ncbi.nlm.nih.gov/30956637/
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.250

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glycogen storage disease type Ia
Tags
new-gene-name
OMIM
613742
Clinvar variants
Variants in G6PC
Penetrance
None
Panels with this gene

History Filter Activity

7 Feb 2024, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: G6PC were changed from Glycogen storage disease Ia to Glycogen storage disease type Ia

25 Oct 2023, Gel status: 3

Added Tag

Mafalda Gomes (Genomics England Curator)

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

25 Oct 2023, Gel status: 3

Removed Tag, Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag different_gene_name was removed from gene: G6PC. Tag G6PC1 was removed from gene: G6PC.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Glycogen storage disease Ia for gene: G6PC

14 Jul 2023, Gel status: 3

Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

Mode of inheritance for gene: G6PC was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal

5 Jul 2023, Gel status: 3

Set mode of inheritance, Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Mode of inheritance for gene G6PC was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Glycogen storage disease Ia for gene: G6PC

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Glycogen storage disease Ia for gene: G6PC

5 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Glycogen storage disease Ia for gene: G6PC

27 Mar 2023, Gel status: 3

Added Tag, Added Tag

Mafalda Gomes (Genomics England Curator)

Tag different_gene_name tag was added to gene: G6PC. Tag G6PC1 tag was added to gene: G6PC.

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Glycogen storage disease Ia for gene: G6PC

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: G6PC was added gene: G6PC was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: G6PC was set to BIALLELIC, autosomal or pseudoautosomal