Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: WRNEnsemblGeneIds (GRCh38): ENSG00000165392
EnsemblGeneIds (GRCh37): ENSG00000165392
OMIM: 604611, Gene2Phenotype
WRN is in 14 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Hypogonadism is a prominent feature of the condition, reportedly present in ~80% of cases.
Sources: LiteratureCreated: 6 Dec 2021, 3:57 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Werner syndrome MIM#277700
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Werner syndrome MIM#277700
- 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
Bryony Thompson (Royal Melbourne Hospital)Gene: wrn has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: wrn has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: WRN was added gene: WRN was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WRN were set to 34794894; 20301687 Phenotypes for gene: WRN were set to Werner syndrome MIM#277700 Review for gene: WRN was set to GREEN gene: WRN was marked as current diagnostic