Skeletal dysplasia

Gene: WNT7A

Green List (high evidence)

Limb hypoplasia-reduction defects gp of SD, particularly affecting upper and lower limbs (ulna/fibula).green - 4 ; Review on behalf of Tracy Lester/Michael Oldridge

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fuhrmann syndrome 228930; Ulna and fibula, absence of, with severe limb deficiency 276820

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: WNT7A; Initial rating suggestion: green

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

Comment when marking as ready: Associated with phenotypes in G2P. Four variants reported in Ulna and fibula, absence of, with severe limb deficiency 276820 and one in Fuhrmann syndrome 228930.

Created: 13 Jul 2016, 7:12 a.m.

Green List (high evidence)

Tier 2

Created: 17 Jun 2016, 8:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fuhrmann syndrome 228930; Ulna and fibula, absence of, with severe limb deficiency 276820

Variants in this GENE are reported as part of current diagnostic practice