Skeletal dysplasia
Gene: WNT10B
Limb hypoplasia-reduction defects gp of SD, green - >4 variants (other variants lead to dental abnormalities, tooth agenesis, selective 8' omim 617073; Review on behalf of Tracy Lester/Michael OldridgeCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Split-hand/foot malformation 6 225300
Publications
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: WNT10B; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least three variants reportedCreated: 1 Aug 2016, 9:46 a.m.
Tier 2Created: 17 Jun 2016, 8:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Split-hand/foot malformation 6 225300
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: WNT10B were changed from Split-hand/foot malformation 6 225300 to Split-hand/foot malformation 6, OMIM:225300
Added phenotypes Split-hand/foot malformation 6 225300 for gene: WNT10B
Source NHS GMS was added to WNT10B. 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).
This gene has been classified as Green List (High Evidence).
Publications for WNT10B were set to 24211389
Phenotypes for WNT10B were set to Split-hand/foot malformation 6 225300
Mode of inheritance for WNT10B was changed to BIALLELIC, autosomal or pseudoautosomal
WNT10B was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen
WNT10B was added to Unexplained skeletal dysplasiapanel. Sources:
WNT10B was created by sleigh