Monogenic diabetes
Gene: PIK3R1EnsemblGeneIds (GRCh38): ENSG00000145675
EnsemblGeneIds (GRCh37): ENSG00000145675
OMIM: 171833, Gene2Phenotype
PIK3R1 is in 19 panels
3 reviews
Ivone Leong (Genomics England Curator)
Comment on phenotypes: Previous phenotypes:
Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, 269880;SHORT syndromeCreated: 16 Mar 2021, 2:19 p.m. | Last Modified: 16 Mar 2021, 2:19 p.m.
Panel Version: 2.31
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 syndrome, OMIM:269880
- OMIM
- 171833
- Clinvar variants
- Variants in PIK3R1
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Insulin resistance (including lipodystrophy)
- Intellectual disability
- Corneal abnormalities
- Monogenic short stature
- COVID-19 research
- 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
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
- Skeletal dysplasia
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: PIK3R1 were changed from Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, 269880; SHORT syndrome to SHORT syndrome, OMIM:269880
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: PIK3R1 were changed from Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome; SHORT syndrome to Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, 269880; SHORT syndrome
Panel promoted to version 1.0
Ivone Leong (Genomics England Curator)Ivone Leong: Initial gene list and info col
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to PIK3R1.
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome for gene: PIK3R1
Set Phenotypes, Set publications
Ellen McDonagh (Genomics England Curator)Added phenotypes Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome for gene: PIK3R1 Publications for gene PIK3R1 were changed from 23810379; 23810382; 23810378 to 23810378
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)gene: PIK3R1 was added gene: PIK3R1 was added to Monogenic diabetes. Sources: Expert Review Green Mode of inheritance for gene: PIK3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PIK3R1 were set to 23810379; 23810382; 23810378 Phenotypes for gene: PIK3R1 were set to SHORT syndrome Mode of pathogenicity for gene: PIK3R1 was set to Other - please provide details in the comments