Skeletal dysplasia
Gene: WNT7A
Limb hypoplasia-reduction defects gp of SD, particularly affecting upper and lower limbs (ulna/fibula).green - 4 ; Review on behalf of Tracy Lester/Michael OldridgeCreated: 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
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: greenCreated: 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.
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
Added phenotypes Ulna and fibula, absence of, with severe limb deficiency 276820; Fuhrmann syndrome 228930 for gene: WNT7A
Source NHS GMS was added to WNT7A. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for WNT7A were set to Fuhrmann syndrome 228930; Ulna and fibula, absence of, with severe limb deficiency 276820
Mode of inheritance for WNT7A was changed to BIALLELIC, autosomal or pseudoautosomal
WNT7A was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,UKGTN
WNT7A was added to Unexplained skeletal dysplasiapanel. Sources:
WNT7A was created by sleigh