Insulin resistance (including lipodystrophy)
Gene: PIK3R1

PIK3R1 (phosphoinositide-3-kinase regulatory subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000145675
EnsemblGeneIds (GRCh37): ENSG00000145675
OMIM: 171833, Gene2Phenotype
PIK3R1 is in 19 panels

3 reviews

David Savage (IMS MRL, Uni. Cambridge)

Green List (high evidence)

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

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 269880, this phenotype does not include Acanthosis nigricans
Created: 12 Aug 2016, 8:18 a.m.

Comment on mode of pathogenicity: LOF probably is responsible for this phenotype
Created: 12 Aug 2016, 8:14 a.m.

Comment on phenotypes: Also associated with Agammaglobulinemia 7, autosomal recessive 615214 and Immunodeficiency 36 616005
Created: 12 Aug 2016, 6:33 a.m.

Created: 12 Aug 2016, 6:33 a.m.

Panel version: 0.89

Robert Semple (University of Cambridge)

Green List (high evidence)

Around 50% of patients have the p.Arg649Trp mutation. Nearly all others are located in the C terminal SH2 domain, unlike those mutations causing immunodeficiency, suggesting that the pathogenic mechanism is not simple loss of function
Created: 12 Oct 2015, 8:53 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Mode of pathogenicity
Other

Created: 12 Oct 2015, 8:53 a.m.

Panel version: 0

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
UKGTN

Phenotypes

SHORT syndrome 269880

OMIM

171833

Clinvar variants

Variants in PIK3R1

Penetrance

Complete

Publications

Mode of Pathogenicity

Other - please provide details in the comments

Panels with this gene