Gastrointestinal epithelial barrier disorders
Gene: PIK3R1
PIK3R1 (phosphoinositide-3-kinase regulatory subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000145675
EnsemblGeneIds (GRCh37): ENSG00000145675
OMIM: 171833, Gene2Phenotype
PIK3R1 is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000145675
EnsemblGeneIds (GRCh37): ENSG00000145675
OMIM: 171833, Gene2Phenotype
PIK3R1 is in 19 panels
4 reviews
Olivia Niblock (Genomics England Curator)
Comment on list classification: Expert review green, however internal curation has listed this gene as low evidence. It appears that variants in this gene are linked to SHORT syndrome, Agammaglobulinaemia and Immunodeficiency, some of the symptoms of which can be chronic diarrhea seen only in some patients.
Unable to find strong evidence directly linking variants in this gene to gastrointestinal phenotypes.Created: 26 Jul 2018, 10:54 a.m.
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)
Sarah Leigh (Genomics England Curator)
Comment on phenotypes: Monogenic variants also reported in Immunodeficiency 36 616005 and SHORT syndrome 269880Created: 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.
Details
- Sources
-
- Expert Review Amber
- UKGTN
- Phenotypes
-
- Inflammatory Bowel Disease (Very Early Onset)
- OMIM
- 171833
- Clinvar variants
- Variants in PIK3R1
- Penetrance
- None
- 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
26 Jul 2018, Gel status: 2
Entity classified by Genomics England curator
Olivia Niblock (Genomics England Curator)Gene: pik3r1 has been classified as Amber List (Moderate Evidence).
25 Jul 2018, Gel status: 1
Panel promoted to version 1.0
Olivia Niblock (Genomics England Curator)Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018
17 Apr 2018, Gel status: 1
Added New Source
Olivia Niblock (Genomics England Curator)PIK3R1 was added to Gastrointestinal epithelial barrier disorders panel. Sources: UKGTN
17 Apr 2018, Gel status: 1
Created
Olivia Niblock (Genomics England Curator)PIK3R1 was created by Olivia Niblock