A- or hypo-gammaglobulinaemia
Gene: PIK3CD

PIK3CD (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta)
EnsemblGeneIds (GRCh38): ENSG00000171608
EnsemblGeneIds (GRCh37): ENSG00000171608
OMIM: 602839, Gene2Phenotype
PIK3CD is in 6 panels

4 reviews

William Rae (University Hospital Southampton NHS Foundation Trust)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
sinopulmonary infections, dysgammaglobulinaemia, lymphadenopathy, nodular lymphoid hyperplasia and herpesviremia

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Three positive expert reviews. Not associated with disease on Gen2Phen. Numerous disease associated variants reported in the publications.
Created: 11 May 2016, 10:07 a.m.

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen

Phenotypes

Immunodeficiency 14 615513

OMIM

602839

Clinvar variants

Variants in PIK3CD

Penetrance

Complete

Publications

Panels with this gene