Cancer Predisposition_Paediatric
Gene: WRNEnsemblGeneIds (GRCh38): ENSG00000165392
EnsemblGeneIds (GRCh37): ENSG00000165392
OMIM: 604611, Gene2Phenotype
WRN is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Werner syndrome (WRN) is a rare autosomal recessive segmental progeroid syndrome. Patients exhibit not only an appearance of accelerated aging (premature graying, thinning of hair, skin atrophy and atrophy of subcutaneous fat), but also several disorders commonly associated with aging, including bilateral cataracts, diabetes mellitus, osteoporosis, premature arteriosclerosis, and a variety of benign and malignant neoplasms.
Well established gene-disease association.Created: 31 Aug 2021, 3 a.m. | Last Modified: 31 Aug 2021, 3 a.m.
Panel Version: 0.110
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Werner syndrome, MIM# 277700; MONDO:0010196
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Werner syndrome, MIM# 277700
- MONDO:0010196
- OMIM
- 604611
- Clinvar variants
- Variants in WRN
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Skeletal dysplasia
- Additional findings_Paediatric
- Prepair 1000+
- Lipodystrophy_Lipoatrophy
- Mendeliome
- BabyScreen+ newborn screening
- Cataract
- Sarcoma soft tissue
- Prepair 500+
- Cancer Predisposition_Paediatric
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Growth failure
- Sarcoma non-soft tissue
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: wrn has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: WRN were changed from to Werner syndrome, MIM# 277700; MONDO:0010196
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: WRN were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: WRN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: WRN was added gene: WRN was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: WRN was set to Unknown