Sarcoma susceptibility
Gene: WRNEnsemblGeneIds (GRCh38): ENSG00000165392
EnsemblGeneIds (GRCh37): ENSG00000165392
OMIM: 604611, Gene2Phenotype
WRN is in 17 panels
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from Red to Amber, awaiting expert clinical review. This is a Green gene on the Childhood solid tumours cancer susceptibility panel version 1.2 and the Thyroid cancer pertinent cancer susceptibility panel version 1.0 for Werner syndrome. It is a confirmed cancer gene in Gen2Phenotype for Werner syndrome.Created: 18 Apr 2019, 3:07 p.m.
This gene was requested to be added to this panel by Shazia Mahamdallie (GOSH).
Sources: Expert listCreated: 18 Apr 2019, 2:59 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Werner syndrome 277700
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Amber
- Expert Review Amber
- Expert list
- Phenotypes
-
- Werner syndrome, OMIM:277700
- Osteosarcoma (disease), MONDO:0009807
- OMIM
- 604611
- Clinvar variants
- Variants in WRN
- Penetrance
- None
- Publications
- Panels with this gene
-
- Sarcoma cancer susceptibility
- Primary ovarian insufficiency
- Insulin resistance (including lipodystrophy)
- Monogenic short stature
- Osteogenesis imperfecta
- Bilateral congenital or childhood onset cataracts
- Sarcoma susceptibility
- Childhood solid tumours
- Monogenic diabetes
- Lipodystrophy - childhood onset
- IUGR and IGF abnormalities
- Structural eye disease
- Inherited non-medullary thyroid cancer
- Skeletal dysplasia
- Thyroid cancer pertinent cancer susceptibility
- Childhood solid tumours cancer susceptibility
- Intellectual disability
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: WRN were changed from Werner syndrome 277700 to Werner syndrome, OMIM:277700; Osteosarcoma (disease), MONDO:0009807
Added New Source
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to WRN.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: WRN was added gene: WRN was added to Sarcoma susceptibility. Sources: Expert Review Amber Mode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WRN were set to 28338660 Phenotypes for gene: WRN were set to Werner syndrome 277700