Limb disorders
Gene: WNT5AEnsemblGeneIds (GRCh38): ENSG00000114251
EnsemblGeneIds (GRCh37): ENSG00000114251
OMIM: 164975, Gene2Phenotype
WNT5A is in 8 panels
3 reviews
Eleanor Williams (Genomics England Curator)
Comment on mode of inheritance: Changed to imprinted status unknown as reviewer had selected this.Created: 4 Dec 2018, 11:47 a.m.
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 13 Jul 2016, 7:07 a.m.
Ana Beleza (Bristol Regional Genetics Service)
Tier 1Created: 17 Jun 2016, 8:09 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Robinow syndrome, autosomal dominant 1 180700
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Emory Genetics Laboratory
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert Review Green
- London South East RGC GSTT
- Viapath
- Phenotypes
-
- Robinow syndrome, autosomal dominant 1 180700
- OMIM
- 164975
- Clinvar variants
- Variants in WNT5A
- Penetrance
- None
- Panels with this gene
History Filter Activity
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ana Beleza: Tier 1
Set mode of inheritance
Eleanor Williams (Genomics England Curator)Mode of inheritance for gene: WNT5A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source, Added New Source, Added New Source, Added New Source, Added New Source, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Expert Review Green was added to WNT5A. Panel: Limb disorders UKGTN was added to WNT5A. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to WNT5A. Panel: Limb disorders Illumina TruGenome Clinical Sequencing Services was added to WNT5A. Panel: Limb disorders Expert list was added to WNT5A. Panel: Limb disorders Emory Genetics Laboratory was added to WNT5A. Panel: Limb disorders Model of inheritance for gene WNT5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
Ellen McDonagh (Genomics England Curator)London South East RGC GSTT was added to WNT5A. Panel: Limb disorders
Added New Source
Ellen McDonagh (Genomics England Curator)WNT5A was added to Limb disorders panel. Sources: Viapath
Created
Ellen McDonagh (Genomics England Curator)WNT5A was created by Ellen McDonagh