Limb disordersGene: WDR60
Added new-gene-name tag, new approved HGNC gene symbol for WDR60 is DYNC2I1
Created: 7 May 2020, 11:26 a.m. | Last Modified: 7 May 2020, 11:26 a.m.
Panel Version: 2.5
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.
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.
Created: 17 Jun 2016, 8:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Short-rib thoracic dysplasia 8 with or without polydactyly 615503
Variants in this GENE are reported as part of current diagnostic practice
Tag new-gene-name tag was added to gene: WDR60.
Ana Beleza: Tier 1
Publications for gene: WDR60 were set to
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
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
London South East RGC GSTT was added to WDR60. Panel: Limb disorders
WDR60 was added to Limb disorders panel. Sources: Viapath
WDR60 was created by Ellen McDonagh