Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: PIK3R1EnsemblGeneIds (GRCh38): ENSG00000145675
EnsemblGeneIds (GRCh37): ENSG00000145675
OMIM: 171833, Gene2Phenotype
PIK3R1 is in 19 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)
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
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Agammaglobulinemia 7, autosomal recessive 615214
- OMIM
- 171833
- Clinvar variants
- Variants in PIK3R1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Insulin resistance (including lipodystrophy)
- Corneal abnormalities
- Monogenic short stature
- COVID-19 research
- Familial diabetes
- Segmental overgrowth disorders - Deep sequencing
- Respiratory ciliopathies including non-CF bronchiectasis
- Monogenic diabetes
- Lipodystrophy - childhood onset
- IUGR and IGF abnormalities
- Mosaic skin disorders - deep sequencing
- Skeletal dysplasia
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Intellectual disability
History Filter Activity
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.
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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for PIK3R1 were set to Agammaglobulinemia 7, autosomal recessive 615214
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Model of inheritance for gene PIK3R1 was set to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene PIK3R1 were set to Agammaglobulinemia 7, autosomal recessive 615214
Added New Source
Ellen McDonagh (Genomics England Curator)PIK3R1 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)PIK3R1 was created by ellenmcdonagh