Predominantly Antibody Deficiency

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 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

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

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

History Filter Activity

12 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PIK3CD was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

4 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pik3cd has been classified as Green List (High Evidence).

4 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PIK3CD were changed from to Immunodeficiency 14, MIM# 615513

4 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PIK3CD were set to

4 Apr 2020, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: PIK3CD was changed from to Other

4 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PIK3CD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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