Retinal disorders

Gene: IFT27

Green List (high evidence)

Agree should be included alongside the other BBS genes in this panel.

Created: 11 Oct 2020, 11:15 p.m. | Last Modified: 11 Oct 2020, 11:15 p.m.

Panel Version: 2.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 19, MIM#615996

Publications

• 24488770
• 30761183
• 26763875
• 25443296

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Comment on list classification: 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, 8:38 a.m. | Last Modified: 31 Jul 2020, 8:38 a.m.

Panel Version: 2.15

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

Retinitis pigmentosa is a feature of BBS-19, and is noted in all cases in literature reported to date (expect one where this could not be assessed due to termination of pregnancy).

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.

Quelin et al. (2018) (PMID: 29704304) 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.

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.

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 BBS presentation.

Created: 31 Jul 2020, 8:35 a.m. | Last Modified: 31 Jul 2020, 8:35 a.m.

Panel Version: 2.14

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 19, 615996

Publications

• 24488770
• 29704304
• 30761183
• 29588463

I don't know

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

Created: 8 Mar 2022, 10:06 a.m. | Last Modified: 8 Mar 2022, 10:06 a.m.

Panel Version: 2.243

Submitted on behalf of the GMS Eye specialist group. These genes are also from RetNet. There is currently not enough evidence to rate these genes Green, therefore they have been given an Amber rating.

Created: 27 Dec 2019, 9:10 a.m. | Last Modified: 27 Dec 2019, 9:10 a.m.

Panel Version: 2.5