Ophthalmological ciliopathies
Gene: IFT27The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 9:57 a.m. | Last Modified: 8 Mar 2022, 9:57 a.m.
Panel Version: 1.27
Comment on list classification: With the addition of recent publications, there are now at least four unrelated cases reported, and therefore enough evidence for a rating upgrade from Amber to GREEN at the next major review.Created: 31 Jul 2020, 8:49 a.m. | Last Modified: 31 Jul 2020, 8:49 a.m.
Panel Version: 1.5
Associated with phenotype in OMIM and a possible gene for Bardet-Biedl syndrome 19 in G2P.
Two additional cases reported.
Schaefer et al. (2019) (PMID: 30761183) report two compound heterozygous IFT27 variants (c.104A>G and c.349 + 1G>T) in a child with a classical Bardet-Biedl syndrome presentation.
Sanchez-Navarro et al. (2018) (PMID: 29588463) report the same c.104A>G variant, as well as c.350-2A>G (compound heterozygous), in a BBS patient, albeit no segregation or functional studies were undertaken.Created: 31 Jul 2020, 8:49 a.m. | Last Modified: 31 Jul 2020, 8:49 a.m.
Panel Version: 1.4
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 19, 615996
Publications
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 familyCreated: 23 Jan 2017, 12:02 p.m.
Comment on list classification: One consanguineous family in OMIMCreated: 17 Dec 2015, 2:18 p.m.
Comment on list classification: 1 family in OMIMCreated: 17 Dec 2015, 2:17 p.m.
Tag for-review was removed from gene: IFT27.
Source Expert Review Green was added to IFT27. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: IFT27 were set to
Gene: ift27 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: IFT27.
gene: IFT27 was added gene: IFT27 was added to Ophthalmological 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