Disorders of immune dysregulation

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 8 panels

1 review

Peter McNaughton (Queensland Children's Hospital)

Green List (high evidence)

Currently included in predominantly antibody deficiency and CVID panels - patients frequently present with features of immune dysregulation eg. autoimmunity and lymphoproliferation.
Sources: Literature
Created: 28 Feb 2025, 12:28 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Immune dysregulation

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Immunodeficiency 14B, autosomal recessive, MIM# 619281
  • Immunodeficiency 14A, autosomal dominant, MIM# 615513
OMIM
602839
Clinvar variants
Variants in PIK3CD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2025, 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).

3 Mar 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PIK3CD were changed from Immune dysregulation to Immunodeficiency 14B, autosomal recessive, MIM# 619281; Immunodeficiency 14A, autosomal dominant, MIM# 615513

3 Mar 2025, 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).

28 Feb 2025, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Peter McNaughton (Queensland Children's Hospital)

gene: PIK3CD was added gene: PIK3CD was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: PIK3CD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PIK3CD were set to PMID: 37600808 Phenotypes for gene: PIK3CD were set to Immune dysregulation Review for gene: PIK3CD was set to GREEN