Skeletal dysplasia
Gene: WNT3
Limb hypoplasia-reduction defects gp of SD, single family reported; Review on behalf of Tracy Lester/Michael OldridgeCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tetra-amelia syndrome 273395
Publications
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: WNT3; Initial rating suggestion: amberCreated: 6 Mar 2019, 11:37 a.m.
Comment when marking as ready: Associated with phenotype in G2P. Only one variant reported in this phenotypeCreated: 12 Jul 2016, 2:28 p.m.
Comment on list classification: Only one variant reported in this phenotypeCreated: 12 Jul 2016, 2:27 p.m.
Tier 2Created: 17 Jun 2016, 8:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Tetra-amelia syndrome 273395
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Tetra-amelia syndrome 273395 for gene: WNT3 Publications for gene WNT3 were changed from to 14872406
Source NHS GMS was added to WNT3.
Promoted to version 1 9th August 2016
This gene has been classified as Red List (Low Evidence).
Phenotypes for WNT3 were set to Tetra-amelia syndrome 273395
Mode of inheritance for WNT3 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
WNT3 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
WNT3 was added to Unexplained skeletal dysplasiapanel. Sources:
WNT3 was created by sleigh