Infantile enterocolitis & monogenic inflammatory bowel disease

Gene: PIK3R1

Amber List (moderate evidence)

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

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Sourced from the A- or hypo-gammaglobulinaemia gene panel version 1.4.
Created: 12 Oct 2016, 4:18 p.m.
Comment on list classification: Promoted from red due to expert review. Confirmed DD gene for AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE and is green on the A- or hypo-gammaglobulinaemia gene panel with 5 green reviews.
Created: 12 Oct 2016, 4:17 p.m.

Neil shah (GOSH)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Comment on phenotypes: Monogenic variants also reported in Immunodeficiency 36 616005 and SHORT syndrome 269880
Created: 6 Sep 2016, 9:59 a.m.
Associated with phenotype in OMIM and G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel. One biallelic variant reported.
Created: 6 Sep 2016, 9:56 a.m.

History Filter Activity

14 Oct 2016, Gel status: 2

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.

12 Oct 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (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

12 Oct 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

6 Sep 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PIK3R1 were set to Agammaglobulinemia 7, autosomal recessive 615214

6 Sep 2016, Gel status: 0

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene PIK3R1 was set to BIALLELIC, autosomal or pseudoautosomal

6 Sep 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene PIK3R1 were set to Agammaglobulinemia 7, autosomal recessive 615214

10 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PIK3R1 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list

10 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PIK3R1 was created by ellenmcdonagh