Non-CF bronchiectasis

Gene: PIK3CD

Green List (high evidence)

PIK3CD (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta)
EnsemblGeneIds (GRCh38): ENSG00000171608
EnsemblGeneIds (GRCh37): ENSG00000171608
OMIM: 602839, Gene2Phenotype
PIK3CD is in 5 panels

2 reviews

Anthony De Soyza (NEWCASTLE university/ freeman hospital bronchiectasis service)

Green List (high evidence)

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 serum
Created: 17 Oct 2015, 7:08 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Mode of pathogenicity
Other

Ellen McDonagh (Genomics England Curator)

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
OMIM
602839
Clinvar variants
Variants in PIK3CD
Penetrance
Complete
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

10 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PIK3CD was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

10 May 2016, Gel status: 0

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for PIK3CD was changed to Other - please provide details in the comments

28 May 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PIK3CD was added to Non-CF bronchiectasispanel. Sources: Expert list