Renal ciliopathies

Gene: IFT27

Green List (high evidence)

Comment on list classification: With the addition of the recent publication, there are now at least three unrelated cases reported with a renal phenotype, and therefore enough evidence for a rating upgrade from Amber to GREEN at the next major review.

Created: 31 Jul 2020, 8:53 a.m. | Last Modified: 31 Jul 2020, 8:53 a.m.

Panel Version: 1.26

Associated with phenotype in OMIM and a possible gene for Bardet-Biedl syndrome 19 in G2P.

Sanchez-Navarro et al. (2018) (PMID: 29588463) report the two compound heterozygous variants (c.104A>G and c.350-2A>G), in a BBS patient with chronic renal failure, albeit no segregation or functional studies were undertaken.

Created: 31 Jul 2020, 8:52 a.m. | Last Modified: 31 Jul 2020, 8:52 a.m.

Panel Version: 1.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 19, 615996

Publications

• 29588463

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 8 Mar 2022, 10:44 a.m. | Last Modified: 8 Mar 2022, 10:44 a.m.

Panel Version: 1.51

PMID: 30761183 - Schaefer et al 2019 - two compound heterozygous mutations in IFT27 identified by WES in a child presenting with the classical BBS signs. However, NO renal phenotype was found.

As this is not a third case with a renal phenotype this gene should stay amber on this panel.

Created: 24 Jun 2020, 4:38 p.m. | Last Modified: 24 Jun 2020, 4:38 p.m.

Panel Version: 1.17

Green List (high evidence)

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

Phenotypes
Bardet-Biedl syndrome 19, MIM# 615996

Publications

• 30761183

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.