Rare multisystem ciliopathy disorders
Gene: IFT52PMID:26880018 (2016, included in Alice's review) examined a child from a consanguineous Indian family who had skeletal dysplasia and additional phenotypes including short hands and feet and postaxial polydactyly. WES revealed a nonsense variant p.R142X in IFT52. The proband's unaffected consanguineous parents were heterozygous for the mutation.
PMID:27466190 (Zhang 2016, from Zornitza's review) report a non-consanguineous family with two fetuses affected by MIM:617102 without polydactyly, and compound heterozygous variant in IFT52. The authors also present functional data for ciliopathies.
PMID:30242358 (2018, Chen et al) provide a third case: They identified a homozygous missense variation in IFT52, c.556A>G (p.T186A), carried by a patient with syndromic ciliopathy, presenting mild SRTD (skeletal ciliopathy) and Liber congenital amaurosis. The variant was absent in both unaffected siblings. This report expands ocular phenotypes of IFT52 mutation-caused ciliopathy to include retinal ciliopathy, and also provides functional information for the role of IFT52 in primary ciliary function.Created: 1 Nov 2018, 2:44 p.m.
Comment on list classification: Updated rating from Red to Green: The 2018 paper (PMID:30242358) takes the number of literature cases of IFT52 homozgyous variants causative for ciliopathy to THREE. Plus functional evidence for role of IFT52 in cilial function (PMIDs:27466190 and 30242358).Created: 1 Nov 2018, 2:36 p.m.
Note additional case reported in this paper, including functional data.Created: 4 Aug 2018, 8:31 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib polydactyly syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Only reported in two individual casesCreated: 25 Jan 2017, 1:05 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 16 with or without polydactyly 617102
Publications
Phenotypes for gene: IFT52 were changed from Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 to Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102; Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915
Publications for gene: IFT52 were set to 26880018
Gene: ift52 has been classified as Green List (High Evidence).
Promoted to version 1 by Alice Gardham on 26th January 2017
This gene has been classified as Red List (Low Evidence).
Phenotypes for IFT52 were set to Short-rib thoracic dysplasia 16 with or without polydactyly, 617102
Publications for IFT52 were set to 26880018
Mode of inheritance for IFT52 was changed to BIALLELIC, autosomal or pseudoautosomal
IFT52 was added to Rare multisystem ciliopathy disorderspanel. Sources: Other
IFT52 was created by ellenmcdonagh