Renal ciliopathiesGene: IFT27
Third family reported in 2019, albeit with variants previously reported in other families.
Created: 3 Jan 2020, 4:10 a.m. | Last Modified: 3 Jan 2020, 4:10 a.m.
Panel Version: 1.0
Bardet-Biedl syndrome 19, MIM# 615996
Comment on list classification: Updated rating from Red to Amber based on presence of second paper: PMID:29704304 (2018) with ciliopathy phenotype, and added 'watchlist' tag.
Created: 1 Nov 2018, 2:49 p.m.
Aldahmesh et al. (2014, PMID:24488770) identified a homozygous c.296G-A transition in the IFT27 gene (p.C99Y) in a consanguineous family with two affected children with Bardet-Biedl syndrome-19 (MIM:615996). Additional signs in one sibling included polydactyly.
PMID:29704304 (2018) describe a fetus with an unclassified severe ciliopathy phenotype including short ribs, polydactyly, bilateral renal agenesis, and imperforate anus, with compound heterozygosity for c.118_125del, p.(Thr40Glyfs*11) and a c.352 +1G>T in IFT27.
Created: 1 Nov 2018, 2:48 p.m.
Comment on list classification: Only reported in one family
Created: 23 Jan 2017, 12:02 p.m.
Comment on list classification: One consanguineous family in OMIM
Created: 17 Dec 2015, 2:18 p.m.
Comment on list classification: 1 family in OMIM
Created: 17 Dec 2015, 2:17 p.m.
gene: IFT27 was added gene: IFT27 was added to Renal ciliopathies. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Amber Mode of inheritance for gene: IFT27 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT27 were set to ?Bardet-Biedl syndrome 19, 615996