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COVID-19 research

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

8 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

IUIS: Inheritance - AR (causes p110-delta deficiency. Associated with severe bacterial infections; autoimmune complications (IBD)), AD GOF (causes activated p110-delta syndrome (APDS). Normal/increased IgM, reduced IgG and IgA. Associated with Severe bacterial infections; reduced memory B cells and increased transitional B cells, EBV +/- CMV viremia, lymphadenopathy/splenomegaly, autoimmunity, lymphoproliferation, lymphoma).
Created: 15 Apr 2020, 12:09 p.m. | Last Modified: 15 Apr 2020, 12:09 p.m.
Panel Version: 0.103

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

Ilenia Simeoni (Addenbrooke's Hospital Cambridge Biomedical Campus)

Green List (high evidence)

Agree with green gene.
This gene is included in our exome panel GEMINI
Created: 14 Oct 2019, 10:01 a.m. | Last Modified: 14 Oct 2019, 10:01 a.m.
Panel Version: 1.132

Publications

Variants in this GENE are reported as part of current diagnostic practice

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): PIK3CD GOF .PanelApp HGNC gene symbol check: PIK3CD . IUIS Disease: PIK3CD mutation . IUIS Inheritance: AD .T cells: Normal, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Severe bacterial infections; decreased or absent pro-B cells, EBV. IUIS Major category: Predominantly Antibody Deficiencies. IUIS Subcategory: Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype
Created: 2 Jul 2018, 10:35 a.m.
Comment on phenotypes: Added phenotypes suggested from external expert review.
Created: 13 Jun 2018, 2:35 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: PIK3CD (PI3K-delta), PanelApp HGNC gene symbol check: PIK3CD, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Combined immunodeficiencies / Combined immunodeficiency (CID) / Combined immunodeficiency; Combined immunodeficiencies / Combined immunodeficiency (CID) / Activated PI3K-delta syndrome (APDS); Predominantly antibody disorders / Unclassified antibody deficiency / Unclassified antibody deficiency
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: PIK3CD, GRID_Gene_Symbol: PIK3CD, GRID_Transcript_ENS_Community submitted: ENST00000377346, GRID_Transcript_RefSeq: NM_005026.3, GRID_Transcript_ENS_used_on_Production: ENST00000377346
Created: 17 Apr 2018, 12:12 p.m.

William Rae (University Hospital Southampton NHS Foundation Trust)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

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

Sarah Leigh (Genomics England Curator)

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.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • IUIS Classification December 2026
Phenotypes
  • Combined immunodeficiency
  • Activated PI3K-delta syndrome (APDS)
  • Unclassified antibody deficiency
  • decreased or absent pro-B cells, EBV
  • Predominantly Antibody Deficiencies
  • sinopulmonary infections, dysgammaglobulinaemia, lymphadenopathy, nodular lymphoid hyperplasia and herpesviremia
  • Severe bacterial infections
  • Immunodeficiency 14,615513
OMIM
602839
Clinvar variants
Variants in PIK3CD
Penetrance
None
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
Panels with this gene

History Filter Activity

15 Apr 2020, Gel status: 3

Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

Source IUIS Classification December 2026 was added to PIK3CD. Mode of inheritance for gene PIK3CD was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

1 Apr 2020, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: PIK3CD was added gene: PIK3CD was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,A- or hypo-gammaglobulinaemia v1.25,IUIS Classification February 2018 Mode of inheritance for gene: PIK3CD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PIK3CD were set to 24165795; 24136356; 29226301 Phenotypes for gene: PIK3CD were set to Combined immunodeficiency; Activated PI3K-delta syndrome (APDS); Unclassified antibody deficiency; decreased or absent pro-B cells, EBV; Predominantly Antibody Deficiencies; sinopulmonary infections, dysgammaglobulinaemia, lymphadenopathy, nodular lymphoid hyperplasia and herpesviremia; Severe bacterial infections; Immunodeficiency 14,615513 Mode of pathogenicity for gene: PIK3CD was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments