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  3. WDR60
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Clefting

Gene: WDR60

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

2 reviews

Catherine Snow (Genomics England)

Added new-gene-name tag, new approved HGNC gene symbol for WDR60 is DYNC2I1
Created: 7 May 2020, 11:08 a.m. | Last Modified: 7 May 2020, 11:08 a.m.
Panel Version: 2.3
Created: 7 May 2020, 11:08 a.m.
Last Modified: 7 May 2020, 11:08 a.m.
Panel version: 2.3

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: 0.193

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY
  • SRTD8
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: 2

Added Tag

Catherine Snow (Genomics England)

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

31 May 2017, Gel status: 2

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

26 May 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

WDR60 was created by ellenmcdonagh

26 May 2017, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

WDR60 was added to Cleftingpanel. Sources: Expert Review Amber