Rare multisystem ciliopathy 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.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
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.
Gene: ift27 has been classified as Green List (High Evidence).
Tag for-review was removed from gene: IFT27.
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 has been classified as Amber List (Moderate Evidence).
Promoted to version 1 by Alice Gardham on 26th January 2017
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
IFT27 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
IFT27 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Phenotypes for gene IFT27 were set to ?Bardet-Biedl syndrome 19, 615996
IFT27 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
IFT27 was created by ellenmcdonagh