Glycogen storage disease

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

3 reviews

Catherine Snow (Genomics England)

Added new-gene-name tag, new approved HGNC gene symbol for G6PC is G6PC1
Created: 23 Feb 2021, 6:03 p.m. | Last Modified: 23 Feb 2021, 6:03 p.m.
Panel Version: 1.4

Emma Ashton (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Carol Hardy (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease Ia 232200

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • London North GLH
  • Expert Review Green
Phenotypes
  • Glycogen storage disease Ia 232200
Tags
new-gene-name
OMIM
613742
Clinvar variants
Variants in G6PC
Penetrance
None
Publications
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.

13 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: G6PC was added gene: G6PC was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: G6PC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: G6PC were set to 20301489 Phenotypes for gene: G6PC were set to Glycogen storage disease Ia 232200