Skeletal dysplasia
Gene: WNT10BEnsemblGeneIds (GRCh38): ENSG00000169884
EnsemblGeneIds (GRCh37): ENSG00000169884
OMIM: 601906, Gene2Phenotype
WNT10B is in 5 panels
4 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
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
Eleanor Williams (Genomics England Curator)
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.
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least three variants reportedCreated: 1 Aug 2016, 9:46 a.m.
Ana Beleza (Bristol Regional Genetics Service)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Expert list
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Split-hand/foot malformation 6, OMIM:225300
- OMIM
- 601906
- Clinvar variants
- Variants in WNT10B
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: WNT10B were changed from Split-hand/foot malformation 6 225300 to Split-hand/foot malformation 6, OMIM:225300
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes Split-hand/foot malformation 6 225300 for gene: WNT10B
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to WNT10B. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for WNT10B were set to 24211389
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for WNT10B were set to Split-hand/foot malformation 6 225300
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for WNT10B was changed to BIALLELIC, autosomal or pseudoautosomal
Upload gene information
Sarah Leigh (Genomics England Curator)WNT10B was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Sarah Leigh (Genomics England Curator)WNT10B was added to Unexplained skeletal dysplasiapanel. Sources:
Created
Sarah Leigh (Genomics England Curator)WNT10B was created by sleigh