Newborns additional phenotypes panel 1
Gene: PIK3R1EnsemblGeneIds (GRCh38): ENSG00000145675
EnsemblGeneIds (GRCh37): ENSG00000145675
OMIM: 171833, Gene2Phenotype
PIK3R1 is in 19 panels
1 review
Mafalda Gomes (Genomics England Curator)
The mechanism of pathogenicity is gain-of-function (GOF).Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.29
https://search.clinicalgenome.org/kb/genes/HGNC:8979 AD is GOF with >17 cases.Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.26
Mutations within the splice acceptor/donor sites for exon 11 lead to the phenotype.Created: 1 Jun 2023, 12:20 p.m. | Last Modified: 1 Jun 2023, 12:20 p.m.
Panel Version: 0.25
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Immunodeficiency 36
- OMIM
- 171833
- Clinvar variants
- Variants in PIK3R1
- Penetrance
- None
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
-
- Intellectual disability
- Monogenic diabetes
- 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
- Skeletal dysplasia
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Gastrointestinal epithelial barrier disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Fetal anomalies
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
History Filter Activity
Set Phenotypes
Mafalda Gomes (Genomics England Curator)Added phenotypes Immunodeficiency 36 for gene: PIK3R1
Set Phenotypes
Mafalda Gomes (Genomics England Curator)Added phenotypes Immunodeficiency 36 for gene: PIK3R1
Added New Source, Set Phenotypes, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Amber was added to PIK3R1. Added phenotypes Immunodeficiency 36 for gene: PIK3R1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity
Mafalda Gomes (Genomics England Curator)gene: PIK3R1 was added gene: PIK3R1 was added to Newborns additional phenotypes panel. Sources: Expert Review Green Mode of inheritance for gene: PIK3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PIK3R1 were set to Immunodeficiency 36 Mode of pathogenicity for gene: PIK3R1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments