A- or hypo-gammaglobulinaemia
Gene: PIK3CD
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
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.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for PIK3CD were set to Immunodeficiency 14 615513
This gene has been classified as Red List (Low Evidence).
Phenotypes for PIK3CD were set to ?Agammaglobulinemia 7, autosomal recessive, 615214; Immunodeficiency 36, 616005; SHORT syndrome, 269880
Publications for PIK3CD were set to 24165795; 24136356
Mode of inheritance for PIK3CD was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance for PIK3CD was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
PIK3CD was added to A- or hypo-gammaglobulinaemiapanel. Sources: Radboud University Medical Center, Nijmegen