Growth failure in early childhood
Gene: WRNEnsemblGeneIds (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
-
- Monogenic diabetes
- Sarcoma cancer susceptibility
- Skeletal dysplasia
- Primary ovarian insufficiency
- Insulin resistance (including lipodystrophy)
- Structural eye disease
- Monogenic short stature
- Childhood solid tumours
- Sarcoma susceptibility
- Osteogenesis imperfecta
- Intellectual disability
- Lipodystrophy - childhood onset
- IUGR and IGF abnormalities
- Inherited non-medullary thyroid cancer
- Thyroid cancer pertinent cancer susceptibility
- Sarcoma of possible germline origin
- Childhood solid tumours cancer susceptibility
- Bilateral congenital or childhood onset cataracts
History Filter Activity
Added New Source, Status Update
Rebecca Foulger (Genomics England curator)Source Expert Review Red was added to WRN. Rating Changed from Green List (high evidence) to Red List (low evidence)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: WRN was added gene: WRN was added to Growth failure in early childhood. Sources: 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