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Skeletal ciliopathies

Gene: WDR34

Green List (high 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, 12:50 p.m. | Last Modified: 7 May 2020, 12:50 p.m.
Panel Version: 1.3
Created: 7 May 2020, 12:50 p.m.
Last Modified: 7 May 2020, 12:50 p.m.
Panel version: 1.3

Alice Gardham (Genomics England)

Green List (high evidence)

Comment on list classification: Lots of literature
Created: 19 Jan 2017, 4:45 p.m.
More than 10 reported cases. Recognised on G2P and offered on GOS ciliopathy panel . All missense/in frame
Created: 19 Jan 2017, 4:44 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 11 with or without polydactyly 615633

Publications

Created: 19 Jan 2017, 4:44 p.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version 0.416

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Other
Phenotypes
  • Short-rib thoracic dysplasia 11 with or without polydactyly
  • Jeune syndrome
  • Short-rib thoracic dysplasia 11 with or without polydactyly, 615633
Tags
new-gene-name
OMIM
613363
Clinvar variants
Variants in WDR34
Penetrance
None
Publications
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: WDR34.

10 Jul 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: WDR34 was added gene: WDR34 was added to Skeletal ciliopathies. Sources: Other,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green Mode of inheritance for gene: WDR34 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR34 were set to 24183449 Phenotypes for gene: WDR34 were set to Short-rib thoracic dysplasia 11 with or without polydactyly; Jeune syndrome; Short-rib thoracic dysplasia 11 with or without polydactyly, 615633