Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: PIK3R1EnsemblGeneIds (GRCh38): ENSG00000145675
EnsemblGeneIds (GRCh37): ENSG00000145675
OMIM: 171833, Gene2Phenotype
PIK3R1 is in 19 panels
8 reviews
Kimberly Gilmour (Great Ormond Street Hopsital)
agree with green geneCreated: 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)
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.
William Rae (University Hospital Southampton NHS Foundation Trust)
Christopher Duncan (Newcastle University)
Tracy Briggs (Manchester Genomic Medicine Centre)
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
Sophie Hambleton (Newcastle University)
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)
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 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.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- Expert Review Green
- ESID Registry 20171117
- GRID V2.0
- GOSH PID v.8.0
- A- or hypo-gammaglobulinaemia v1.25
- Phenotypes
-
- 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
- OMIM
- 171833
- Clinvar variants
- Variants in PIK3R1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Monogenic diabetes
- Intellectual disability
- DDG2P
- Skeletal dysplasia
- Insulin resistance (including lipodystrophy)
- COVID-19 research
- Corneal abnormalities
- Monogenic short stature
- Familial diabetes
- Segmental overgrowth disorders - Deep sequencing
- Respiratory ciliopathies including non-CF bronchiectasis
- Lipodystrophy - childhood onset
- IUGR and IGF abnormalities
- Mosaic skin disorders - deep sequencing
- Gastrointestinal epithelial barrier disorders
- Fetal anomalies
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Primary immunodeficiency or monogenic inflammatory bowel disease
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to PIK3R1.
Added New Source
Louise Daugherty (Genomics England Curator)Source North West GLH was added to PIK3R1.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to PIK3R1.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)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.
Set Phenotypes
Louise Daugherty (Genomics England Curator)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
Added New Source
Louise Daugherty (Genomics England Curator)IUIS Classification February 2018 was added to PIK3R1. Panel: Primary immunodeficiency disorders
Added New Source
Louise Daugherty (Genomics England Curator)Victorian Clinical Genetics Services was added to PIK3R1. Panel: Primary immunodeficiency disorders
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: pik3r1 has been classified as Green List (High Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)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)
Set Phenotypes
Louise Daugherty (Genomics England Curator)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)
Set Phenotypes
Louise Daugherty (Genomics England Curator)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
Set mode of inheritance
Louise Daugherty (Genomics England Curator)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
Added New Source, Set penetrance
Louise Daugherty (Genomics England Curator)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
Set penetrance
Louise Daugherty (Genomics England Curator)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
Added New Source, Set mode of inheritance, Set penetrance
Louise Daugherty (Genomics England Curator)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
Clear Sources
Louise Daugherty (Genomics England Curator)PIK3R1 Source: GOSH PID 20171177 was removed from gene: PIK3R1
Added New Source
Louise Daugherty (Genomics England Curator)GOSH PID v.8.0 was added to PIK3R1. Panel: Primary immunodeficiency disorders
Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)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
Added New Source
Louise Daugherty (Genomics England Curator)PIK3R1 was added to Primary immunodeficiency disorders panel. Sources: Expert Review Green, A- or hypo-gammaglobulinaemia v1.25
Created
Louise Daugherty (Genomics England Curator)PIK3R1 was created by Louise Daugherty