Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: PIK3R1
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): PIK3R1 .PanelApp HGNC gene symbol check: PIK3R1 . IUIS Disease: PIK3R1 deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Severe bacterial infections, decreased or absent pro-B cells. IUIS Major category: Predominantly Antibody Deficiencies. IUIS Subcategory: Severe Reduction in All Serum Immunoglobulin Isotypes with Profoundly Decreased or Absent B Cells, Agammaglobulinemia. // OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): PIK3R1 .PanelApp HGNC gene symbol check: PIK3R1 . IUIS Disease: PIK3R1 deficiency . IUIS Inheritance: AD .T cells: Very low, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Severe bacterial infections, pro-B cells present and low numbers of memory 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, 10:58 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: PIK3R1, PanelApp HGNC gene symbol check: PIK3R1, 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 / Agammaglobulinemias / AgammaglobulinemiaCreated: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: PIK3R1, GRID_Gene_Symbol: PIK3R1, GRID_Transcript_ENS_Community submitted: ENST00000521381, GRID_Transcript_RefSeq: NM_181523.2, GRID_Transcript_ENS_used_on_Production: ENST00000521381Created: 17 Apr 2018, 12:12 p.m.
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
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
agammaglobulinaemia (AR); immunodeficiency with hypogammaglobulinaemia, lymphoproliferation and inflammatory disease (AD)
Publications
Comment when marking as ready: Five positive expert reviews. Disease association on Gen2Phen. LOF variant found in one homozygous Agammaglobulinemia 7 patient and more than three LOF variants found in unrelated Immunodeficiency 36 patientsCreated: 11 May 2016, 10:26 a.m.
Comment on mode of inheritance: From omim for Agammaglobulinemia 7, autosomal recessiveCreated: 10 May 2016, 9:55 a.m.
Source NHS GMS was added to PIK3R1.
Source North West GLH was added to PIK3R1.
Source London North GLH was added to PIK3R1.
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: PIK3R1 were set to Immunodeficiency 36; Agammaglobulinemia 7, autosomal recessive, 615214; SHORT syndrome, 269880; Immunodeficiency 36, 616005; Agammaglobulinemia 7; Immunodeficiency 36; Combined immunodeficiency; Activated PI3K-delta syndrome (APDS); Agammaglobulinemia; immunodeficiency with hypogammaglobulinaemia, lymphoproliferation and inflammatory disease (AD); Severe bacterial infections, decreased or absent pro-B cells; Predominantly Antibody Deficiencies; Severe bacterial infections, pro-B cells present and low numbers of memory B cells, EBV
IUIS Classification February 2018 was added to PIK3R1. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to PIK3R1. Panel: Primary immunodeficiency disorders
Gene: pik3r1 has been classified as Green List (High Evidence).
Phenotypes for gene: PIK3R1 were set to Immunodeficiency 36; Agammaglobulinemia 7, autosomal recessive, 615214; SHORT syndrome, 269880; Immunodeficiency 36, 616005; Agammaglobulinemia 7; Immunodeficiency 36; Combined immunodeficiency; Activated PI3K-delta syndrome (APDS); Agammaglobulinemia; immunodeficiency with hypogammaglobulinaemia, lymphoproliferation and inflammatory disease (AD)
Phenotypes for gene: PIK3R1 were set to Immunodeficiency 36; Agammaglobulinemia 7, autosomal recessive, 615214; SHORT syndrome, 269880; Immunodeficiency 36, 616005; Agammaglobulinemia 7; Immunodeficiency 36; Combined immunodeficiency; Activated PI3K-delta syndrome (APDS); Agammaglobulinemia; immunodeficiency with hypogammaglobulinaemia, lymphoproliferation and inflammatory disease (AD)
Phenotypes for PIK3R1 were set to Immunodeficiency 36; Agammaglobulinemia 7, autosomal recessive, 615214; SHORT syndrome, 269880; Immunodeficiency 36, 616005; Agammaglobulinemia 7; Immunodeficiency 36; Combined immunodeficiency; Activated PI3K-delta syndrome (APDS); Agammaglobulinemia
Mode of inheritance for PIK3R1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
ESID Registry 20171117 was added to PIK3R1. Panel: Primary immunodeficiency disorders Phenotypes for gene PIK3R1 were set to Immunodeficiency 36, Agammaglobulinemia 7, autosomal recessive, 615214, SHORT syndrome, 269880, Immunodeficiency 36, 616005, Agammaglobulinemia 7, Immunodeficiency 36, Immunodeficiency 36, Combined immunodeficiency, Activated PI3K-delta syndrome (APDS), Agammaglobulinemia
Phenotypes for gene PIK3R1 were set to Immunodeficiency 36, Agammaglobulinemia 7, autosomal recessive, 615214, SHORT syndrome, 269880, Immunodeficiency 36, 616005, Agammaglobulinemia 7, Immunodeficiency 36, Immunodeficiency 36
GRID V2.0 was added to PIK3R1. Panel: Primary immunodeficiency disorders Model of inheritance for gene PIK3R1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene PIK3R1 were set to Immunodeficiency 36, Agammaglobulinemia 7, autosomal recessive, 615214, SHORT syndrome, 269880, Immunodeficiency 36, 616005, Agammaglobulinemia 7, Immunodeficiency 36
PIK3R1 Source: GOSH PID 20171177 was removed from gene: PIK3R1
GOSH PID v.8.0 was added to PIK3R1. Panel: Primary immunodeficiency disorders
GOSH PID 20171177 was added to PIK3R1. Panel: Primary immunodeficiency disorders Model of inheritance for gene PIK3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PIK3R1 was added to Primary immunodeficiency disorders panel. Sources: Expert Review Green, A- or hypo-gammaglobulinaemia v1.25
PIK3R1 was created by Louise Daugherty