Limb disorders
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
Ana Beleza: Tier 2
Added phenotypes absence of a radius; Fuhrmann syndrome, 228930; Ulna and fibula, absence of, with severe limb deficiency, 276820; Short, bowed radii for gene: WNT7A
Victorian Clinical Genetics Services was added to WNT7A. Panel: Limb disorders Phenotypes for gene WNT7A were set to Fuhrmann syndrome 228930, Ulna and fibula, absence of, with severe limb deficiency 276820, Polydactyly
Expert list was added to WNT7A. Panel: Limb disorders Emory Genetics Laboratory was added to WNT7A. Panel: Limb disorders Expert Review Green was added to WNT7A. Panel: Limb disorders UKGTN was added to WNT7A. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to WNT7A. Panel: Limb disorders Model of inheritance for gene WNT7A was set to BIALLELIC, autosomal or pseudoautosomal
London South East RGC GSTT was added to WNT7A. Panel: Limb disorders
WNT7A was added to Limb disorders panel. Sources: Viapath
WNT7A was created by Ellen McDonagh