Insulin resistance (including lipodystrophy)
Gene: WRNEnsemblGeneIds (GRCh38): ENSG00000165392
EnsemblGeneIds (GRCh37): ENSG00000165392
OMIM: 604611, Gene2Phenotype
WRN is in 18 panels
2 reviews
Robert Semple (University of Cambridge)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Numerous variants reported. Werner syndrome 27770 does not include Acanthosis nigricansCreated: 12 Aug 2016, 8:24 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Phenotypes
-
- Werner syndrome 277700
- OMIM
- 604611
- Clinvar variants
- Variants in WRN
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Monogenic diabetes
- Sarcoma cancer susceptibility
- Skeletal dysplasia
- Primary ovarian insufficiency
- Insulin resistance (including lipodystrophy)
- Structural eye disease
- Monogenic short stature
- Childhood solid tumours
- Sarcoma susceptibility
- Osteogenesis imperfecta
- Intellectual disability
- Lipodystrophy - childhood onset
- IUGR and IGF abnormalities
- Inherited non-medullary thyroid cancer
- Thyroid cancer pertinent cancer susceptibility
- Sarcoma of possible germline origin
- Childhood solid tumours cancer susceptibility
- Bilateral congenital or childhood onset cataracts
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 12/08/2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for WRN were set to 8602509
Upload gene information
Sarah Leigh (Genomics England Curator)WRN was added to Insulin resistance (including lipodystrophy)panel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for WRN were set to Werner syndrome 277700
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Robert Semple (University of Cambridge)WRN was added to Insulin resistance (including lipodystrophy) panel. Sources: Literature