Infantile enterocolitis & monogenic inflammatory bowel disease

Gene: G6PC3

Green List (high evidence)

G6PC3 (glucose-6-phosphatase catalytic subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000141349
EnsemblGeneIds (GRCh37): ENSG00000141349
OMIM: 611045, Gene2Phenotype
G6PC3 is in 14 panels

3 reviews

Richard Scott (Genomics England Curator)

Comment on list classification: Appropriate phenotype for inclusion
Created: 13 Oct 2016, 8:50 p.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red. Rated green by expert reviewer, and clear evidence for neutropenia, though unsure whether this should be included on this panel.
Created: 12 Oct 2016, 1:17 p.m.

Neil shah (GOSH)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Dursun syndrome OMIM:612541
  • Neutropenia, severe congenital 4, autosomal recessive OMIM:612541
  • autosomal recessive severe congenital neutropenia due to G6PC3 deficiency MONDO:0012930
OMIM
611045
Clinvar variants
Variants in G6PC3
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Feb 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: G6PC3 were changed from Congenital neutropenia to Dursun syndrome OMIM:612541; Neutropenia, severe congenital 4, autosomal recessive OMIM:612541; autosomal recessive severe congenital neutropenia due to G6PC3 deficiency MONDO:0012930

14 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.

13 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Oct 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).

10 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

G6PC3 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list

10 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

G6PC3 was created by ellenmcdonagh