Gastrointestinal epithelial barrier disorders
Gene: PIK3CDComment on list classification: From expert review and internal clinical review, it appears that variants in this gene are more likely to present as a immune system phenotype rather than gastrointestinal.
Taking this into account with the expert review, I am classing this as amberCreated: 25 Jul 2018, 4:08 p.m.
Comment 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 to Immunodeficiency 14B, autosomal recessive, OMIM:619281
Mode of inheritance for gene: PIK3CD was changed from to BIALLELIC, autosomal or pseudoautosomal
Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018
Gene: pik3cd has been classified as Amber List (Moderate Evidence).
PIK3CD was added to Gastrointestinal epithelial barrier disorders panel. Sources: Expert list
PIK3CD was created by Olivia Niblock