Familial diabetes
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
3 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: PIK3R1; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Diabetes and SHORT syndrome (short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay).Created: 11 Jan 2019, 10:04 a.m.
Sian Ellard (University of Exeter Medical School)
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene added to the panel as green due to expert review.Created: 15 Jun 2016, 3:30 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome
- OMIM
- 171833
- Clinvar variants
- Variants in PIK3R1
- Penetrance
- Complete
- Publications
- 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
28 Jun 2016, Gel status: 4
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PIK3R1 were set to Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome
28 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
15 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
16 Oct 2015, Gel status: 0
Added New Source
Sian Ellard (University of Exeter Medical School)PIK3R1 was added to Familial diabetespanel. Sources: Expert Review