Infantile enterocolitis & monogenic inflammatory bowel diseaseGene: G6PC3
Comment on list classification: Appropriate phenotype for inclusion
Created: 13 Oct 2016, 8:50 p.m.
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.
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
14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
G6PC3 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list
G6PC3 was created by ellenmcdonagh