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Limb disorders

Gene: WNT5A

Green List (high evidence)

WNT5A (Wnt family member 5A)
EnsemblGeneIds (GRCh38): ENSG00000114251
EnsemblGeneIds (GRCh37): ENSG00000114251
OMIM: 164975, Gene2Phenotype
WNT5A is in 7 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)

Green List (high evidence)

Tier 1
Created: 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

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 1

4 Dec 2018, Gel status: 4

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

5 Apr 2018, Gel status: 4

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

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to WNT5A. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

WNT5A was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

WNT5A was created by Ellen McDonagh