Limb disorders
Gene: WDR60

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

4 reviews

Catherine Snow (Genomics England)

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

Created: 7 May 2020, 11:26 a.m.
Last Modified: 7 May 2020, 11:26 a.m.
Panel version: 2.5

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.

Created: 3 Dec 2018, 10:16 p.m.

Panel version: 0.337

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.

Created: 21 Jun 2016, 1:15 p.m.

Panel version: Imported from Unexplained skeletal dysplasia panel version 0.95

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

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

Panel version: Imported from Unexplained skeletal dysplasia panel version 0.4

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

Tags

new-gene-name

OMIM

615462

Clinvar variants

Variants in WDR60

Penetrance

None

Publications

23910462

Panels with this gene

History Filter Activity

7 May 2020, Gel status: 3

Added Tag

Catherine Snow (Genomics England)

Tag new-gene-name tag was added to gene: WDR60.

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