Limb disordersGene: IFT52
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, 10:54 p.m.
Ocurrence of polydactyly is variable in MIM:617102. Currently insufficient cases of polydactyly (1 case in PMID:26880018) for inclusion on limb panel.
Created: 7 Nov 2018, 1:26 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Polydactyly; Short-rib thoracic dysplasia 16 with or without polydactyly, 617102
Rebecca Foulger: Ocurrence of polydactyly is va
Gene: ift52 has been removed from the panel.
Source Expert Review Removed was added to IFT52. Rating Changed from Amber List (moderate evidence) to No List (delete)
Gene: ift52 has been classified as Amber List (Moderate Evidence).
Source Expert Review Amber was added to IFT52. Mode of inheritance for gene IFT52 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Short-rib thoracic dysplasia 16 with or without polydactyly, 617102; Polydactyly for gene: IFT52 Publications for gene IFT52 were changed from to 26880018 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
IFT52 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
IFT52 was created by Ellen McDonagh