Gastrointestinal epithelial barrier disorders
Gene: PIK3R1Comment 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.
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.
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.
Gene: pik3r1 has been classified as Amber List (Moderate Evidence).
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
PIK3R1 was added to Gastrointestinal epithelial barrier disorders panel. Sources: UKGTN
PIK3R1 was created by Olivia Niblock