Skeletal dysplasia
Gene: PIK3R1EnsemblGeneIds (GRCh38): ENSG00000145675
EnsemblGeneIds (GRCh37): ENSG00000145675
OMIM: 171833, Gene2Phenotype
PIK3R1 is in 19 panels
4 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
>3 cases reported. Short stature is a feature of SHORT syndrome, as well as hyperextensible joints. At least 3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
SHORT syndrome 269880
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: PIK3R1; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least five variants reported in SHORT syndrome 269880Created: 29 Jul 2016, 12:06 p.m.
Comment on phenotypes: At least one biallelic variant reported in Agammaglobulinemia 7, autosomal recessive 615214 and two in Immunodeficiency 36 616005Created: 29 Jul 2016, 12:04 p.m.
Ana Beleza (Bristol Regional Genetics Service)
Tier 1Created: 17 Jun 2016, 8:07 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
SHORT syndrome 269880
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- UKGTN
- Expert list
- Phenotypes
-
- SHORT syndrome 269880
- OMIM
- 171833
- Clinvar variants
- Variants in PIK3R1
- Penetrance
- Complete
- 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
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes SHORT syndrome 269880 for gene: PIK3R1
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to PIK3R1. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for PIK3R1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for PIK3R1 were set to SHORT syndrome 269880
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)PIK3R1 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,UKGTN
Created
Sarah Leigh (Genomics England Curator)PIK3R1 was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)PIK3R1 was added to Unexplained skeletal dysplasiapanel. Sources: