Skeletal dysplasia
Gene: WNT5A
Mesomelic and rhizo-mesomelic dysplasias gp of SD, ribs, vertebrae, limbs. green - >5 variants identified. Do you report variants in this gene as part of your current diagnostic practice? YES - Robinow; Review on behalf of Tracy Lester/Michael OldridgeCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Robinow syndrome, autosomal dominant 1 180700
Variants in this GENE are reported as part of current diagnostic practice
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: WNT5A; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 13 Jul 2016, 7:07 a.m.
Tier 1Created: 17 Jun 2016, 8:09 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Robinow syndrome, autosomal dominant 1 180700
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Robinow syndrome, autosomal dominant 1 180700 for gene: WNT5A
Source NHS GMS was added to WNT5A. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for WNT5A were set to Robinow syndrome, autosomal dominant 1 180700
Mode of inheritance for WNT5A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
WNT5A was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
WNT5A was created by sleigh
WNT5A was added to Unexplained skeletal dysplasiapanel. Sources: