Structural eye disease
Gene: WRNEnsemblGeneIds (GRCh38): ENSG00000165392
EnsemblGeneIds (GRCh37): ENSG00000165392
OMIM: 604611, Gene2Phenotype
WRN is in 17 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
DB cataract gene, can't find any evidence that it is associated with structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Werner syndrome ; 277700
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB cataract gene, can't find any evidence that it is associated with structural eye diseaseCreated: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Werner syndrome ; 277700
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Phenotypes
-
- Werner syndrome, 277700
- OMIM
- 604611
- Clinvar variants
- Variants in WRN
- Penetrance
- None
- Panels with this gene
-
- Sarcoma cancer susceptibility
- Primary ovarian insufficiency
- Insulin resistance (including lipodystrophy)
- Monogenic short stature
- Osteogenesis imperfecta
- Bilateral congenital or childhood onset cataracts
- Sarcoma susceptibility
- Childhood solid tumours
- Monogenic diabetes
- Lipodystrophy - childhood onset
- IUGR and IGF abnormalities
- Structural eye disease
- Inherited non-medullary thyroid cancer
- Skeletal dysplasia
- Thyroid cancer pertinent cancer susceptibility
- Childhood solid tumours cancer susceptibility
- Intellectual disability
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: WRN was added gene: WRN was added to Structural eye disease. Sources: 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