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  3. WDR34
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Clefting

Gene: WDR34

Amber List (moderate evidence)
WDR34 (WD repeat domain 34)
EnsemblGeneIds (GRCh38): ENSG00000119333
EnsemblGeneIds (GRCh37): ENSG00000119333
OMIM: 613363, Gene2Phenotype
WDR34 is in 11 panels

2 reviews

Catherine Snow (Genomics England)

Added new-gene-name tag, new approved HGNC gene symbol for WDR34 is DYNC2I2
Created: 7 May 2020, 12:49 p.m. | Last Modified: 7 May 2020, 12:49 p.m.
Panel Version: 2.3
Created: 7 May 2020, 12:49 p.m.
Last Modified: 7 May 2020, 12:49 p.m.
Panel version: 2.3

Helen Brittain (Genomics England Curator)

I don't know

Causation is clear, but no cases of clefting reported
Created: 26 May 2017, 7:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY; SRTD11

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 11 WITH OR WITHOUT POLYDACTYLY
  • SRTD11
Tags
new-gene-name
OMIM
613363
Clinvar variants
Variants in WDR34
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: WDR34.

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: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

WDR34 was added to Cleftingpanel. Sources: Expert Review Amber

26 May 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

WDR34 was created by ellenmcdonagh