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Prepair 1000+

Gene: WRN

Green List (high evidence)

WRN (Werner syndrome RecQ like helicase)
EnsemblGeneIds (GRCh38): ENSG00000165392
EnsemblGeneIds (GRCh37): ENSG00000165392
OMIM: 604611, Gene2Phenotype
WRN is in 14 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Progressive multisystem disorder with onset in childhood.
Created: 7 Feb 2025, 5:56 a.m. | Last Modified: 7 Feb 2025, 5:56 a.m.
Panel Version: 1.1508

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Werner syndrome, MIM#277700

Lisa Norbart (Victorian Clinical Genetics Services)

I don't know

Werner syndrome (WRN) is a rare autosomal recessive segmental progeroid syndrome. Individuals with Werner syndrome develop normally until the end of the first decade. The first symptom, often recognized retrospectively, is the lack of a growth spurt during the early teen years. Symptoms typically start in the 20s. Initial findings include loss and graying of hair, hoarseness, and scleroderma-like skin changes, followed by bilateral ocular cataracts, type 2 diabetes mellitus, hypogonadism, skin ulcers, and osteoporosis in the 30s. Median age of diagnosis ranges from late 30s to 40s. (GeneReviews)

Definitive gene-disease association.
Created: 6 Feb 2025, 5:45 a.m. | Last Modified: 6 Feb 2025, 5:45 a.m.
Panel Version: 1.1459

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Werner syndrome, MIM#277700

Publications

History Filter Activity

7 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: wrn has been classified as Green List (High Evidence).

7 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: WRN were changed from Werner syndrome, 277700 (3) to Werner syndrome, MIM#277700

7 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: WRN were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Werner syndrome, 277700 (3) for gene: WRN

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: WRN was added gene: WRN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,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 (3)