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Limb disorders

Gene: WDR60

Green List (high evidence)

WDR60 (WD repeat domain 60)
EnsemblGeneIds (GRCh38): ENSG00000126870
EnsemblGeneIds (GRCh37): ENSG00000126870
OMIM: 615462, Gene2Phenotype
WDR60 is in 10 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Is a cilia gene that has only been identified in a few patients but one of them is described with polydactyly and only very slightly narrowed thorax (https://www.ncbi.nlm.nih.gov/pubmed/23910462). Advice from Genomics England clinical team is to keep on the limb panel in case we miss this gene in someone who is thought just to have polydactyly.
Created: 3 Dec 2018, 10:16 p.m.

Sarah Leigh (Genomics England Curator)

Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)
Created: 21 Jun 2016, 1:15 p.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:09 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 8 with or without polydactyly 615503

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Short-rib thoracic dysplasia 8 with or without polydactyly 615503
  • Polydactyly
OMIM
615462
Clinvar variants
Variants in WDR60
Penetrance
None
Publications
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

3 Dec 2018, Gel status: 4

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: WDR60 were set to

13 Aug 2018, Gel status: 4

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to WDR60. Panel: Limb disorders Phenotypes for gene WDR60 were set to Short-rib thoracic dysplasia 8 with or without polydactyly 615503, Polydactyly

5 Apr 2018, Gel status: 4

Added New Source, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to WDR60. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to WDR60. Panel: Limb disorders Model of inheritance for gene WDR60 was set to BIALLELIC, autosomal or pseudoautosomal

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to WDR60. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

WDR60 was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

WDR60 was created by Ellen McDonagh