Limb disorders
Gene: WDR34Added 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
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.
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.
Tag curated_removed tag was added to gene: WDR34.
Tag new-gene-name tag was added to gene: WDR34.
Sarah Leigh: Comment when marking as ready:
Gene: wdr34 has been removed from the panel.
Source Expert Review Removed was added to WDR34. Rating Changed from Green List (high evidence) to No List (delete)
Gene: wdr34 has been classified as Green List (High Evidence).
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
Publications for gene: WDR34 were set to
Gene: wdr34 has been classified as Green List (High Evidence).
Phenotypes for gene: WDR34 were changed from Polydactyly to Short-rib thoracic dysplasia 11 with or without polydactyly 615633
Mode of inheritance for gene: WDR34 was changed from to BIALLELIC, autosomal or pseudoautosomal
WDR34 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
WDR34 was created by Ellen McDonagh