Predominantly Antibody Deficiency
Gene: PIK3CDComment on mode of pathogenicity: Gain of function is the mechanism of disease (PMID: 30018075)Created: 21 Jul 2020, 2:43 a.m. | Last Modified: 21 Jul 2020, 2:43 a.m.
Panel Version: 0.62
Comment on list classification: On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120).Created: 21 Jul 2020, 2:39 a.m. | Last Modified: 21 Jul 2020, 2:39 a.m.
Panel Version: 0.59
Multiple individuals reported with GoF variants, most commonly E1021K. Note recent reports of bi-allelic variants causing disease: severe bacterial infections, and increased chance of autoimmunity.Created: 4 Apr 2020, 4:13 a.m. | Last Modified: 12 Apr 2020, 4:49 a.m.
Panel Version: 0.57
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 14, MIM# 615513
Publications
Mode of pathogenicity
Other
Mode of inheritance for gene: PIK3CD was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: pik3cd has been classified as Green List (High Evidence).
Phenotypes for gene: PIK3CD were changed from to Immunodeficiency 14, MIM# 615513
Publications for gene: PIK3CD were set to
Mode of pathogenicity for gene: PIK3CD was changed from to Other
Mode of inheritance for gene: PIK3CD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: PIK3CD was added gene: PIK3CD was added to Predominantly antibody deficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: PIK3CD was set to Unknown