Limb disordersGene: IFT27
This gene is amber on the GMS Bardet Biedl syndrome panel https://panelapp.genomicsengland.co.uk/panels/543/ v1.0
Created: 25 Nov 2019, 10:09 p.m. | Last Modified: 25 Nov 2019, 10:10 p.m.
Panel Version: 1.104
Two literature cases of polydactyly in ciliopathy patients (PMID:24488770 from 2014 and PMID:29704304 from 2018). Therefore require further cases before inclusion on a diagnostic panel.
Created: 7 Nov 2018, 1:26 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Polydactyly; ?Bardet-Biedl syndrome 19, 615996
Rebecca Foulger: Two literature cases of polyda
Gene: ift27 has been classified as Amber List (Moderate Evidence).
Source Expert Review Amber was added to IFT27. Mode of inheritance for gene IFT27 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ?Bardet-Biedl syndrome 19, 615996; Polydactyly for gene: IFT27 Publications for gene IFT27 were changed from to 24488770; 29704304 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
IFT27 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
IFT27 was created by Ellen McDonagh