Skeletal dysplasia

Gene: WRN

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

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.