Limb disorders
Gene: IFT27
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, 8:57 a.m. | Last Modified: 31 Jul 2020, 8:57 a.m.
Panel Version: 2.12
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, including postaxial polydactyly and syndactyly.
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 with polydactyly, albeit no segregation or functional studies were undertaken.Created: 31 Jul 2020, 8:56 a.m. | Last Modified: 31 Jul 2020, 8:56 a.m.
Panel Version: 2.11
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 19, 615996
Publications
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 5 Mar 2022, 8:17 p.m. | Last Modified: 5 Mar 2022, 8:17 p.m.
Panel Version: 2.67
This gene is amber on the GMS Bardet Biedl syndrome panel https://panelapp.genomicsengland.co.uk/panels/543/ v1.0Created: 25 Nov 2019, 10:09 p.m. | Last Modified: 25 Nov 2019, 10:10 p.m.
Panel Version: 1.104
Two literature cases of polydactyly in ciliopathy patients (PMID:24488770 from 2014 and PMID:29704304 from 2018). Therefore require further cases before inclusion on a diagnostic panel.Created: 7 Nov 2018, 1:26 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polydactyly; ?Bardet-Biedl syndrome 19, 615996
Publications
Phenotypes for gene: IFT27 were changed from ?Bardet-Biedl syndrome 19, 615996; Polydactyly to Bardet-Biedl syndrome 19, OMIM:615996; Polydactyly
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)
Tag for-review tag was added to gene: IFT27.
Publications for gene: IFT27 were set to 24488770; 29704304
Gene: ift27 has been classified as Amber List (Moderate Evidence).
Rebecca Foulger: Two literature cases of polyda
Gene: ift27 has been classified as Amber List (Moderate Evidence).
Source Expert Review Amber was added to IFT27. Mode of inheritance for gene IFT27 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ?Bardet-Biedl syndrome 19, 615996; Polydactyly for gene: IFT27 Publications for gene IFT27 were changed from to 24488770; 29704304 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
IFT27 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
IFT27 was created by Ellen McDonagh