Skeletal dysplasia
Gene: WRN

WRN (Werner syndrome RecQ like helicase)
EnsemblGeneIds (GRCh38): ENSG00000165392
EnsemblGeneIds (GRCh37): ENSG00000165392
OMIM: 604611, Gene2Phenotype
WRN is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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. Short stature is a key feature. Well established gene-disease association.
Created: 31 Aug 2021, 2:57 a.m. | Last Modified: 31 Aug 2021, 2:57 a.m.

Panel Version: 0.8994

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Werner syndrome, MIM# 277700; MONDO:0010196

Publications

Created: 31 Aug 2021, 2:57 a.m.
Last Modified: 31 Aug 2021, 2:57 a.m.
Panel version: Imported from Mendeliome panel version 0.8994

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS
Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Werner syndrome -277700

OMIM

604611

Clinvar variants

Variants in WRN

Penetrance

None

Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: WRN was added gene: WRN was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WRN were set to Werner syndrome -277700

Skeletal dysplasia Gene: WRN