Predominantly Antibody Deficiency
Gene: PIK3CD

PIK3CD (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta)
EnsemblGeneIds (GRCh38): ENSG00000171608
EnsemblGeneIds (GRCh37): ENSG00000171608
OMIM: 602839, Gene2Phenotype
PIK3CD is in 7 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment 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

Created: 21 Jul 2020, 2:39 a.m.
Last Modified: 21 Jul 2020, 2:39 a.m.
Panel version: Imported from Common Variable Immunodeficiency panel version 0.59

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Created: 4 Apr 2020, 4:13 a.m.
Last Modified: 12 Apr 2020, 4:49 a.m.
Panel version: 0.57

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

Immunodeficiency 14, MIM# 615513

OMIM

602839

Clinvar variants

Variants in PIK3CD

Penetrance

None

Publications

Mode of Pathogenicity

Other

Panels with this gene