Skeletal dysplasia

Gene: WNT3

I don't know

Limb hypoplasia-reduction defects gp of SD, single family reported; Review on behalf of Tracy Lester/Michael Oldridge

Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Tetra-amelia syndrome 273395

Publications

• 14872406

I don't know

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: amber

Created: 6 Mar 2019, 11:37 a.m.

Comment when marking as ready: Associated with phenotype in G2P. Only one variant reported in this phenotype

Created: 12 Jul 2016, 2:28 p.m.

Comment on list classification: Only one variant reported in this phenotype

Created: 12 Jul 2016, 2:27 p.m.

Green List (high evidence)

Tier 2

Created: 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