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COVID-19 research

Gene: PIK3R1

Green List (high evidence)

PIK3R1 (phosphoinositide-3-kinase regulatory subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000145675
EnsemblGeneIds (GRCh37): ENSG00000145675
OMIM: 171833, Gene2Phenotype
PIK3R1 is in 17 panels

8 reviews

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): 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 Phenotype
Created: 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 / Agammaglobulinemia
Created: 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: ENST00000521381
Created: 17 Apr 2018, 12:12 p.m.

William Rae (University Hospital Southampton NHS Foundation Trust)

Green List (high evidence)

Christopher Duncan (Newcastle University)

Green List (high evidence)

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
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

Peter Arkwright (Royal Manchester Foundation Trust)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

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 patients
Created: 11 May 2016, 10:26 a.m.
Comment on mode of inheritance: From omim for Agammaglobulinemia 7, autosomal recessive
Created: 10 May 2016, 9:55 a.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
Phenotypes
  • Agammaglobulinemia
  • Severe bacterial infections, decreased or absent pro-B cells
  • Combined immunodeficiency
  • Immunodeficiency 36
  • Activated PI3K-delta syndrome (APDS)
  • immunodeficiency with hypogammaglobulinaemia, lymphoproliferation and inflammatory disease (AD)
  • Agammaglobulinemia 7, autosomal recessive, 615214
  • Agammaglobulinemia 7
  • Immunodeficiency 36, 616005
  • Predominantly Antibody Deficiencies
  • SHORT syndrome, 269880
  • Severe bacterial infections, pro-B cells present and low numbers of memory B cells, EBV
OMIM
171833
Clinvar variants
Variants in PIK3R1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: PIK3R1 was added gene: PIK3R1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,A- or hypo-gammaglobulinaemia v1.25,IUIS Classification February 2018 Mode of inheritance for gene: PIK3R1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: PIK3R1 were set to 25133428; 22351933; 9888855; 25488983 Phenotypes for gene: PIK3R1 were set to Agammaglobulinemia; Severe bacterial infections, decreased or absent pro-B cells; Combined immunodeficiency; Immunodeficiency 36; Activated PI3K-delta syndrome (APDS); immunodeficiency with hypogammaglobulinaemia, lymphoproliferation and inflammatory disease (AD); Agammaglobulinemia 7, autosomal recessive, 615214; Agammaglobulinemia 7; Immunodeficiency 36, 616005; Predominantly Antibody Deficiencies; SHORT syndrome, 269880; Severe bacterial infections, pro-B cells present and low numbers of memory B cells, EBV