Diabetes with additional phenotypes suggestive of a monogenic aetiology
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
2 reviews
Sian Ellard (University of Exeter Medical School)
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted to green due to expert review - Sian Ellard (University of Exeter Medical School).Created: 23 Aug 2016, 11:49 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- 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
- Skeletal dysplasia
- Insulin resistance (including lipodystrophy)
- COVID-19 research
- Corneal abnormalities
- Monogenic short stature
- Familial diabetes
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- Segmental overgrowth disorders - Deep sequencing
- Respiratory ciliopathies including non-CF bronchiectasis
- Lipodystrophy - childhood onset
- IUGR and IGF abnormalities
- Mosaic skin disorders - deep sequencing
- Intellectual disability
- Gastrointestinal epithelial barrier disorders
- DDG2P
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
History Filter Activity
23 Aug 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).
23 Aug 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).
23 Aug 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PIK3R1 was created by ellenmcdonagh
23 Aug 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)PIK3R1 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Expert Review