Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: PIK3CD

The mode of inheritance of this gene has been approved by the NHS Genomic Medicine Service.

Created: 4 Mar 2022, 10:17 a.m. | Last Modified: 4 Mar 2022, 10:34 a.m.

Panel Version: 2.529

Added 'for-review' tag as the MOI has changed since previous sign-off of this panel (version 2.1) and requires review by the Specialist Test Group.

Created: 21 Oct 2020, 4:34 p.m. | Last Modified: 21 Oct 2020, 4:34 p.m.

Panel Version: 2.368

Comment on mode of inheritance: Updated MOI from Monoallelic to Both Monoallelic and biallelic based on expert review and evidence provided by Zornitza Stark (Australian Genomics).

Created: 15 Apr 2020, 2:29 p.m. | Last Modified: 15 Apr 2020, 2:29 p.m.

Panel Version: 2.64

Green List (high evidence)

Note recent reports of bi-allelic variants causing disease.

Created: 12 Apr 2020, 4:50 a.m. | Last Modified: 12 Apr 2020, 4:50 a.m.

Panel Version: 2.51

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Severe bacterial infections; autoimmunity

Publications

• 31073077

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

• PMID: 29226301

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

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

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.

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
sinopulmonary infections, dysgammaglobulinaemia, lymphadenopathy, nodular lymphoid hyperplasia and herpesviremia

Publications

• 24165795
• 24136356

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

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.