Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: PIK3CDThe 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
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
Agree with green gene.
This gene is included in our exome panel GEMINICreated: 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
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
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 PhenotypeCreated: 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 deficiencyCreated: 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: ENST00000377346Created: 17 Apr 2018, 12:12 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
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
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.
Phenotypes for gene: PIK3CD were changed from Immunodeficiency 14,615513; Combined immunodeficiency; Unclassified antibody deficiency; Activated PI3K-delta syndrome (APDS); sinopulmonary infections, dysgammaglobulinaemia, lymphadenopathy, nodular lymphoid hyperplasia and herpesviremia; Severe bacterial infections; decreased or absent pro-B cells, EBV; Predominantly Antibody Deficiencies to Immunodeficiency 14A, autosomal dominant, OMIM:615513; Immunodeficiency 14B, autosomal recessive, OMIM:619281; Combined immunodeficiency; Activated PI3K-delta syndrome (APDS); Predominantly Antibody Deficiencies; Sinopulmonary infections, dysgammaglobulinaemia, lymphadenopathy, nodular lymphoid hyperplasia and herpesviremia; Severe bacterial infections
Tag for-review was removed from gene: PIK3CD.
Tag for-review tag was added to gene: PIK3CD.
Mode of inheritance for gene: PIK3CD was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PIK3CD were set to 24165795; 24136356; 29226301
Publications for gene: PIK3CD were set to 24165795; 24136356
Source NHS GMS was added to PIK3CD.
Source North West GLH was added to PIK3CD.
Source London North GLH was added to PIK3CD.
2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.
Phenotypes for gene PIK3CD were set to Immunodeficiency 14,615513, Combined immunodeficiency, Unclassified antibody deficiency, Activated PI3K-delta syndrome (APDS), sinopulmonary infections, dysgammaglobulinaemia, lymphadenopathy, nodular lymphoid hyperplasia and herpesviremia, Severe bacterial infections, decreased or absent pro-B cells, EBV, Predominantly Antibody Deficiencies
IUIS Classification February 2018 was added to PIK3CD. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to PIK3CD. Panel: Primary immunodeficiency disorders
Gene: pik3cd has been classified as Green List (High Evidence).
Phenotypes for gene: PIK3CD were set to Immunodeficiency 14,615513; Combined immunodeficiency; Unclassified antibody deficiency; Activated PI3K-delta syndrome (APDS); sinopulmonary infections, dysgammaglobulinaemia, lymphadenopathy, nodular lymphoid hyperplasia and herpesviremia
Mode of pathogenicity for PIK3CD was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Phenotypes for PIK3CD were set to Immunodeficiency 14,615513; Combined immunodeficiency; Unclassified antibody deficiency; Activated PI3K-delta syndrome (APDS)
Mode of inheritance for PIK3CD was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
ESID Registry 20171117 was added to PIK3CD. Panel: Primary immunodeficiency disorders Phenotypes for gene PIK3CD were set to Immunodeficiency 14, 615513, Combined immunodeficiency, Unclassified antibody deficiency, Activated PI3K-delta syndrome (APDS)
Phenotypes for gene PIK3CD were set to Immunodeficiency 14, 615513
GRID V2.0 was added to PIK3CD. Panel: Primary immunodeficiency disorders Model of inheritance for gene PIK3CD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene PIK3CD were set to Immunodeficiency 14, 615513
PIK3CD was added to Primary immunodeficiency disorders panel. Sources: Expert Review Green, A- or hypo-gammaglobulinaemia v1.25
PIK3CD was created by Louise Daugherty