A- or hypo-gammaglobulinaemia

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 15 panels

6 reviews

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)

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
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Agammaglobulinemia 7, autosomal recessive, 615214
  • SHORT syndrome, 269880
  • Immunodeficiency 36 616005
OMIM
171833
Clinvar variants
Variants in PIK3R1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 May 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 May 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for PIK3R1 were set to 22351933; 9888855; 25133428; 25488983

11 May 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene PIK3R1 were set to Agammaglobulinemia 7, autosomal recessive, 615214;SHORT syndrome, 269880;Immunodeficiency 36 616005

11 May 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 May 2016, Gel status: 4

Set mode of pathogenicity

Sarah Leigh (Genomics England Curator)

Mode of pathogenicity for PIK3R1 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 May 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PIK3R1 were set to Agammaglobulinemia 7, autosomal recessive, 615214; SHORT syndrome, 269880; Immunodeficiency 36 616005

10 May 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for PIK3R1 were set to 22351933; 9888855; 25133428; 25488983

10 May 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for PIK3R1 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

10 May 2016, Gel status: 4

Set mode of pathogenicity

Sarah Leigh (Genomics England Curator)

Mode of pathogenicity for PIK3R1 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

10 May 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for PIK3R1 was changed to BIALLELIC, autosomal or pseudoautosomal

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

PIK3R1 was added to A- or hypo-gammaglobulinaemiapanel. Sources: UKGTN

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

PIK3R1 was added to A- or hypo-gammaglobulinaemiapanel. Sources: Radboud University Medical Center, Nijmegen