IUGR and IGF abnormalities
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
1 review
emma baple (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
SHORT syndrome
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- SHORT syndrome
- OMIM
- 171833
- Clinvar variants
- Variants in PIK3R1
- Penetrance
- Complete
- Panels with this gene
-
- Segmental overgrowth disorders - Deep sequencing
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Skeletal dysplasia
- Insulin resistance (including lipodystrophy)
- COVID-19 research
- Corneal abnormalities
- Mosaic skin disorders - Deep sequencing
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Severe insulin resistance and lipodystrophy syndromes
- Monogenic short stature
- Fetal anomalies
- Familial diabetes
- IUGR and IGF abnormalities
- DDG2P
- Respiratory ciliopathies including non-CF bronchiectasis
- Gastrointestinal epithelial barrier disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Intellectual disability
History Filter Activity
10 May 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
10 May 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
10 May 2016, Gel status: 0
Added New Source
emma baple (Genomics England Curator)PIK3R1 was added to IUGR and IGF abnormalitiespanel. Sources: Expert list
10 May 2016, Gel status: 0
Created
emma baple (Genomics England Curator)PIK3R1 was created by ebapleC