Thoracic dystrophies
Gene: WDR60

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

5 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: 1.7

Created: 7 May 2020, 11:26 a.m.
Last Modified: 7 May 2020, 11:26 a.m.
Panel version: 1.7

Melita Irving (Guy's and St Thomas' NHS Trust)

Green List (high evidence)

Phenotypes
JATD

Created: 31 May 2017, 9:18 a.m.

Panel version: 0.124

Hannah Mitchison (UCL and GOSH)

Green List (high evidence)

Phenotypes
JATD

Created: 31 May 2017, 9:10 a.m.

Panel version: 0.124

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Feedback from Hannah Mitchison that this gene should be green.
Created: 31 May 2017, 8:28 a.m.

Created: 31 May 2017, 8:28 a.m.

Panel version: 0.110

Helen Brittain (Genomics England Curator)

I don't know

Two unrelated cases to date
Created: 26 May 2017, 7:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8

Created: 26 May 2017, 7:40 a.m.

Panel version: Imported from "Clefting" panel version 0.193

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen

Phenotypes

Short-rib thoracic dysplasia 8 with or without polydactyly, 615503
Jeune Asphyxiating Thoracic Dystrophy

Tags

new-gene-name

OMIM

615462

Clinvar variants

Variants in WDR60

Penetrance

Complete

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.

31 May 2017, Gel status: 4