Bilateral congenital or childhood onset cataracts
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
Sarah Waller (Manchester Centre for Genomic Medicine)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Werner syndrome
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Gene and phenotype added from the Manchester congenital cataracts gene panel. More than 3 unrelated case reported in OMIM. Not found in Gene2phenotype associated with a disease.Created: 29 Apr 2016, 3:21 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Werner syndrome
- OMIM
- 604611
- Clinvar variants
- Variants in WRN
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Monogenic short stature
- Sarcoma cancer susceptibility
- Primary ovarian insufficiency
- Osteogenesis imperfecta
- Insulin resistance (including lipodystrophy)
- Severe insulin resistance and lipodystrophy syndromes
- Skeletal dysplasia
- Monogenic diabetes
- Sarcoma susceptibility
- Sarcoma of possible germline origin
- Bilateral congenital or childhood onset cataracts
- IUGR and IGF abnormalities
- Childhood solid tumours
- Inherited non-medullary thyroid cancer
- Thyroid cancer pertinent cancer susceptibility
- Childhood solid tumours cancer susceptibility
- Structural eye disease
History Filter Activity
14 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
13 May 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
29 Apr 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)WRN was created by ellenmcdonagh
29 Apr 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)WRN was added to Cataractspanel. Sources: Expert list