Radial dysplasia
Gene: WNT7AComment when marking as ready: Although typically associated with absence of the ulna, the radius is therefore often shortened and bowed. A single forearm bone may be difficult to identify by the non-expert. Therefore include on the radial dysplasia panel.Created: 11 May 2017, 2:19 p.m.
Comment on list classification: Sufficient cases as per Sarah Leigh's reviewCreated: 11 May 2017, 2:18 p.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.
Tier 2Created: 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
23.05.2017: Panel revised and approved to Version 1.0 after expert review.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
WNT7A was added to Radial dysplasiapanel. Source: Expert list
WNT7A was created by rfoulger
WNT7A was added to Radial dysplasiapanel. Sources: Other