Rare multisystem ciliopathy disorders

Gene: IFT27

Green List (high evidence)

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.

Created: 31 Jul 2020, 8:45 a.m. | Last Modified: 21 Oct 2020, 3:43 p.m.

Panel Version: 1.130

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, 8:42 a.m. | Last Modified: 31 Jul 2020, 8:42 a.m.

Panel Version: 1.125

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 19, 615996

Publications

• 30761183
• 29588463

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.