Corneal abnormalities
Gene: PIK3R1EnsemblGeneIds (GRCh38): ENSG00000145675
EnsemblGeneIds (GRCh37): ENSG00000145675
OMIM: 171833, Gene2Phenotype
PIK3R1 is in 19 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Discussed with Chris Campbell and the Manchester GDL group, and should be promoted to green.Created: 22 Feb 2017, 11:14 a.m.
Chris Campbell (NHS)
Reiger anomaly analysis assiciated with SHORTCreated: 7 Feb 2017, 5:35 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
SHORT syndrome (AD) - Reiger anomaly
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- GDL Corneal Abnormalities panel
- Phenotypes
-
- SHORT syndrome 269880
- OMIM
- 171833
- Clinvar variants
- Variants in PIK3R1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Intellectual disability
- 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
- 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
panel promoted to version 1
Chris Campbell (GEL)09/03/2017 Revised and approved to Version 1.0 after expert and internal review.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for PIK3R1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PIK3R1 were set to SHORT syndrome 269880
Set publications
Ellen McDonagh (Genomics England Curator)Publications for PIK3R1 were set to 23810378
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)PIK3R1 was added to Corneal abnormalitiespanel. Sources: GDL Corneal Abnormalities panel
Created
Ellen McDonagh (Genomics England Curator)PIK3R1 was created by ellenmcdonagh