Limb disordersGene: WDR35
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 phenotypes in OMIM and as confirmed Gen2Phen gene. At least 9 variants reported in Cranioectodermal dysplasia 2 613610 and 7 variants reported in Short-rib thoracic dysplasia 7 with or without polydactyly 614091. Both phenotypes are relevant to this panel, supportive evidence also provided from a mouse model (PMID 21473986).
Created: 10 Sep 2018, 11:11 a.m.
Tag curated_removed tag was added to gene: WDR35.
Sarah Leigh: Comment when marking as ready:
Gene: wdr35 has been removed from the panel.
Source Expert Review Removed was added to WDR35. Rating Changed from Green List (high evidence) to No List (delete)
Gene: wdr35 has been classified as Green List (High Evidence).
Gene: wdr35 has been classified as Red List (Low Evidence).
Publications for gene: WDR35 were set to
Phenotypes for gene: WDR35 were changed from Polydactyly to Cranioectodermal dysplasia 2 613610; Short-rib thoracic dysplasia 7 with or without polydactyly 614091
Mode of inheritance for gene: WDR35 was changed from to BIALLELIC, autosomal or pseudoautosomal
WDR35 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
WDR35 was created by Ellen McDonagh