Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: PIK3CDComment on list classification: Promoted from red to green due to expert review and curated evidence.Created: 12 Oct 2016, 4:04 p.m.
Associated with phenotype in OMIM, not in G2P / DD. Four gain of function variants reported, p.Glu1021Lys found in at least 23 individual from 10 unrelated families.
Created: 6 Sep 2016, 10:22 a.m.
Comment on mode of pathogenicity: Activating gain of function variants associated with phenotypeCreated: 6 Sep 2016, 10:16 a.m.
Phenotypes for gene: PIK3CD were changed from PI3K activation syndrome; Immunodeficiency 14 615513 to Immunodeficiency 14A, autosomal dominant, OMIM:615513
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 Green List (High Evidence).
Mode of pathogenicity for PIK3CD was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
PIK3CD was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Radboud University Medical Center, Nijmegen
Phenotypes for gene PIK3CD were set to PI3K activation syndrome; Immunodeficiency 14 615513
PIK3CD was created by ellenmcdonagh
PIK3CD was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list