Limb disorders
Gene: WDR34EnsemblGeneIds (GRCh38): ENSG00000119333
EnsemblGeneIds (GRCh37): ENSG00000119333
OMIM: 613363, Gene2Phenotype
WDR34 is in 11 panels
3 reviews
Catherine Snow (Genomics England)
Added new-gene-name tag, new approved HGNC gene symbol for WDR34 is DYNC2I2Created: 7 May 2020, 12:44 p.m. | Last Modified: 7 May 2020, 12:44 p.m.
Panel Version: 2.5
Eleanor Williams (Genomics England Curator)
Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded.Created: 2 Dec 2018, 11:16 p.m.
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for Short-rib thoracic dysplasia 11 with or without polydactyly 615633 and severe asphyxiating thoracic dysplasia. Although polydactyly is not commonly recorded in this phenotype, the majority of cases have shorted limbs, such that PMID 24183451 reports 5 variants in 4 unrelated cases with short limbs.Created: 10 Sep 2018, 11:57 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- Victorian Clinical Genetics Services
- Phenotypes
-
- Short-rib thoracic dysplasia 11 with or without polydactyly 615633
- severe asphyxiating thoracic dysplasia
- Tags
- OMIM
- 613363
- Clinvar variants
- Variants in WDR34
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: WDR34.
Added Tag
Catherine Snow (Genomics England)Tag new-gene-name tag was added to gene: WDR34.
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Sarah Leigh: Comment when marking as ready:
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: wdr34 has been removed from the panel.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Removed was added to WDR34. Rating Changed from Green List (high evidence) to No List (delete)
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: wdr34 has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: WDR34 were changed from Short-rib thoracic dysplasia 11 with or without polydactyly 615633 to Short-rib thoracic dysplasia 11 with or without polydactyly 615633; severe asphyxiating thoracic dysplasia
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: WDR34 were set to
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: wdr34 has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: WDR34 were changed from Polydactyly to Short-rib thoracic dysplasia 11 with or without polydactyly 615633
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: WDR34 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)WDR34 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
Created
Ellen McDonagh (Genomics England Curator)WDR34 was created by Ellen McDonagh