Non-CF bronchiectasis
Gene: PIK3CD
Activated PI3K-δ Syndrome (APDS), a Primary Immunodeficiency associated with a dominant gain-of-function mutation E1021K in the p110δ protein, the catalytic subunit of phosphoinositide 3-kinase δ (PI3Kδ), encoded by the PIK3CD gene. We found E1021K in 17 patients from seven unrelated families, but not among 3,346 healthy subjects. APDS was characterized by recurrent respiratory infections, progressive airway damage, lymphopenia, increased circulating transitional B cells, increased IgM and reduced IgG2 levels in serumCreated: 17 Oct 2015, 7:08 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity
Other
Comment on list classification: Originally a red gene, however has a green expert review and multiple cases reported in OMIM. Several different missense variants have been reported which have a gain-of-function effect, which will be considered tier 2.Created: 10 May 2016, 9:49 a.m.
"PI3Kinase delta activating mutation" was submitted by an expert. The HGNC approved symbol for this gene was curated as PIK3CD, and mode of pathogenicity was added as gain of function to capture the information from the expert.Created: 8 Jul 2015, 10:28 a.m.
Phenotypes for gene: PIK3CD were changed from to Immunodeficiency 14A, autosomal dominant, OMIM:615513
This gene has been classified as Green List (High Evidence).
Mode of inheritance for PIK3CD was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 Other - please provide details in the comments
PIK3CD was added to Non-CF bronchiectasispanel. Sources: Expert list