Lipodystrophy_Lipoatrophy
Gene: WRNEnsemblGeneIds (GRCh38): ENSG00000165392
EnsemblGeneIds (GRCh37): ENSG00000165392
OMIM: 604611, Gene2Phenotype
WRN is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Lipodystrophy particularly affecting limbs is a feature of many progeroid disorders, including Werner syndrome.Created: 27 Apr 2021, 11:28 p.m. | Last Modified: 27 Apr 2021, 11:28 p.m.
Panel Version: 0.87
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Werner syndrome, MIM# 277700; MONDO:0010196
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Werner syndrome, MIM# 277700
- MONDO:0010196
- OMIM
- 604611
- Clinvar variants
- Variants in WRN
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Skeletal dysplasia
- Additional findings_Paediatric
- Prepair 1000+
- Lipodystrophy_Lipoatrophy
- Mendeliome
- BabyScreen+ newborn screening
- Cataract
- Sarcoma soft tissue
- Prepair 500+
- Cancer Predisposition_Paediatric
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Growth failure
- Sarcoma non-soft tissue
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: wrn has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: WRN were changed from to Werner syndrome, MIM# 277700; MONDO:0010196
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: WRN were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: WRN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: WRN was added gene: WRN was added to Lipodystrophy / Lipoatrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: WRN was set to Unknown