Limb disordersGene: WDR19
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, 11:15 p.m.
Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. Two variants reported as compound heterozygotes in affected members of one family with Cranioectodermal dysplasia 4 and one homozygous variant reported in Short-rib thoracic dysplasia 5 without polydactyly 614376, but this phenotype also includes brachydactyly.
Created: 10 Sep 2018, 12:29 p.m.
Comment on phenotypes: Variants also reported in Nephronophthisis 13 614377 & Senior-Loken syndrome 8 616307, but these phenotypes are not relevant to the limb disorders panel
Created: 10 Sep 2018, 12:25 p.m.
Tag curated_removed tag was added to gene: WDR19.
Sarah Leigh: Comment on phenotypes: Variant
Gene: wdr19 has been removed from the panel.
Source Expert Review Removed was added to WDR19. Rating Changed from Red List (low evidence) to No List (delete)
Gene: wdr19 has been classified as Red List (Low Evidence).
Mode of inheritance for gene: WDR19 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR19 were changed from ?Cranioectodermal dysplasia 4 614378; ?Short-rib thoracic dysplasia 5 with or without polydactyly 614376 to ?Cranioectodermal dysplasia 4 614378; ?Short-rib thoracic dysplasia 5 with or without polydactyly 614376
Publications for gene: WDR19 were set to
Phenotypes for gene: WDR19 were changed from Polydactyly to ?Cranioectodermal dysplasia 4 614378; ?Short-rib thoracic dysplasia 5 with or without polydactyly 614376
WDR19 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
WDR19 was created by Ellen McDonagh