Osteogenesis imperfecta
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
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
Remove from panelCreated: 27 Nov 2015, 3:05 p.m.
Details
- Sources
-
- Expert Review Removed
- Emory Genetics Laboratory
- Phenotypes
-
- Proportionate Short Stature/Small for Gestational Age
- Tags
- OMIM
- 604611
- Clinvar variants
- Variants in WRN
- Penetrance
- Complete
- Panels with this gene
-
- Sarcoma cancer susceptibility
- Primary ovarian insufficiency
- Insulin resistance (including lipodystrophy)
- Monogenic diabetes
- Severe insulin resistance and lipodystrophy syndromes
- Sarcoma susceptibility
- Osteogenesis imperfecta
- IUGR and IGF abnormalities
- Childhood solid tumours
- Sarcoma of possible germline origin
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Monogenic short stature
- Inherited non-medullary thyroid cancer
- Thyroid cancer pertinent cancer susceptibility
- Structural eye disease
- Skeletal dysplasia
- Childhood solid tumours cancer susceptibility
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: WRN.
16 May 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
20 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)WRN was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory