Infantile enterocolitis & monogenic inflammatory bowel diseaseGene: PIK3R1
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 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.
14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
Mode of inheritance for PIK3R1 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for PIK3R1 were set to Agammaglobulinemia 7, autosomal recessive 615214
Model of inheritance for gene PIK3R1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene PIK3R1 were set to Agammaglobulinemia 7, autosomal recessive 615214
PIK3R1 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list
PIK3R1 was created by ellenmcdonagh