Primary ovarian insufficiency
Gene: WRN
WRN (Werner syndrome RecQ like helicase)
EnsemblGeneIds (GRCh38): ENSG00000165392
EnsemblGeneIds (GRCh37): ENSG00000165392
OMIM: 604611, Gene2Phenotype
WRN is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000165392
EnsemblGeneIds (GRCh37): ENSG00000165392
OMIM: 604611, Gene2Phenotype
WRN is in 18 panels
2 reviews
Louise IZATT (GSTT Clinical Genetics Service)
POI as with any premature ageing syndrome is expected. WRN patients may be identified in other cohorts, but what might be interesting is whether digenic inheritance plays a role in POI, and therefore these rare heterozygous variants may be of more importance.Created: 9 Jun 2017, 4:29 p.m.
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Marked as red as patients with Werner Syndrome would be expected to be recruited under a different disease category given the syndromic phenotypeCreated: 30 May 2017, 1:32 p.m.
POI can be a feature of Werner syndrome
Created: 26 May 2017, 11:07 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Werner syndrome 277700
- OMIM
- 604611
- Clinvar variants
- Variants in WRN
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Skeletal dysplasia
- Bilateral congenital or childhood onset cataracts
- Sarcoma cancer susceptibility
- Intellectual disability
- Primary ovarian insufficiency
- Insulin resistance (including lipodystrophy)
- Monogenic diabetes
- Severe insulin resistance and lipodystrophy syndromes
- Sarcoma susceptibility
- Osteogenesis imperfecta
- Monogenic short stature
- IUGR and IGF abnormalities
- Childhood solid tumours
- Sarcoma of possible germline origin
- Inherited non-medullary thyroid cancer
- Thyroid cancer pertinent cancer susceptibility
- Structural eye disease
- Childhood solid tumours cancer susceptibility
History Filter Activity
31 May 2017, Gel status: 1
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoting to Version 1 on 31-05-2017, after internal curation and review.
30 May 2017, Gel status: 1
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
25 May 2017, Gel status: 0
Added New Source
Arianna Tucci (Genomics England Curator)WRN was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature
25 May 2017, Gel status: 0
Created
Arianna Tucci (Genomics England Curator)WRN was created by arianna