Monogenic short stature
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
1 review
Rebecca Foulger (Genomics England curator)
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that this gene was outside the scope of this clinical indication. Therefore demoted gene from Green to Red.Created: 30 May 2019, 9:49 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Werner syndrome
- OMIM
- 604611
- Clinvar variants
- Variants in WRN
- Penetrance
- None
- 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
- Structural eye disease
- 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
- Childhood solid tumours cancer susceptibility
History Filter Activity
26 Mar 2024, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: WRN was added gene: WRN was added to Monogenic short stature. Sources: Expert Review Red Mode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WRN were set to Werner syndrome