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Skeletal dysplasia

Gene: WRN

Red List (low evidence)

WRN (Werner syndrome RecQ like helicase)
EnsemblGeneIds (GRCh38): ENSG00000165392
EnsemblGeneIds (GRCh37): ENSG00000165392
OMIM: 604611, Gene2Phenotype
WRN is in 17 panels

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Gene previously called WRN. Habitus is characteristic, with short stature, slender limbs, and stocky trunk. The nose is beaked. Several cases.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Werner syndrome -277700

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Keeping red for now. Associated with Werner syndrome with Osteoporosis and slender limbs listed as clinical features in OMIM. Short stature. But need confirmation that this is considered strong enough a skeletal dysplasia phenotype before promoting to green.
Created: 11 Dec 2019, 6:16 p.m. | Last Modified: 11 Dec 2019, 6:17 p.m.
Panel Version: 1.290
Associated with Werner syndrome #277700 (AR) in OMIM with Osteoporosis and slender limbs listed as clinical features.
From Genetics Home Reference "Werner syndrome is characterized by the dramatic, rapid appearance of features associated with normal aging. Individuals with this disorder typically grow and develop normally until they reach puberty. Affected teenagers usually do not have a growth spurt, resulting in short stature".

Numerous variants reported in the RECQL2/WRN gene in association with Werner syndrome in OMIM.
Created: 20 Nov 2019, 11:16 a.m. | Last Modified: 20 Nov 2019, 11:16 a.m.
Panel Version: 1.216
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: RECQL2; Initial rating suggestion: green if SD
Created: 6 Mar 2019, 11:36 a.m.

History Filter Activity

11 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: wrn has been classified as Red List (Low Evidence).

20 Nov 2019, Gel status: 1

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: WRN was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

20 Nov 2019, Gel status: 1

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: WRN was changed from to BIALLELIC, autosomal or pseudoautosomal

6 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Werner syndrome -277700 for gene: WRN

6 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: WRN was added gene: WRN was added to Skeletal dysplasia. Sources: NHS GMS Mode of inheritance for gene: WRN was set to