This Panel is marked as Deleted
GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: WRN
WRN (Werner syndrome RecQ like helicase)
EnsemblGeneIds (GRCh38): ENSG00000165392
EnsemblGeneIds (GRCh37): ENSG00000165392
OMIM: 604611, Gene2Phenotype
WRN is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000165392
EnsemblGeneIds (GRCh37): ENSG00000165392
OMIM: 604611, Gene2Phenotype
WRN is in 17 panels
1 review
Tracy Lester (Genetics laboratory, Oxford UK)
Gene previously called WRN. Habitus is characteristic, with short stature, slender limbs, and stocky trunk. The nose is beaked. Several cases.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Werner syndrome -277700
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- 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
- Monogenic diabetes
- Insulin resistance (including lipodystrophy)
- Structural eye disease
- Skeletal dysplasia
- Monogenic short stature
- Childhood solid tumours
- Sarcoma susceptibility
- Osteogenesis imperfecta
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Lipodystrophy - childhood onset
- IUGR and IGF abnormalities
- Inherited non-medullary thyroid cancer
- Thyroid cancer pertinent cancer susceptibility
- Childhood solid tumours cancer susceptibility
History Filter Activity
6 Mar 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: WRN was added gene: WRN was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WRN were set to Werner syndrome -277700