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| Rare multisystem ciliopathy disorders v1.139 | IFT52 | Arina Puzriakova 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders v1.71 | IFT52 |
Rebecca Foulger commented on gene: IFT52: PMID: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. |
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| Rare multisystem ciliopathy disorders v1.71 | IFT52 | Rebecca Foulger Publications for gene: IFT52 were set to 26880018 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders v1.70 | IFT52 | Rebecca Foulger Classified gene: IFT52 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders v1.70 | IFT52 | Rebecca Foulger Added comment: 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). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders v1.70 | IFT52 | Rebecca Foulger Gene: ift52 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders | IFT52 | Zornitza Stark reviewed gene: IFT52 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders | IFT52 | Alice Gardham marked IFT52 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders | IFT52 | Alice Gardham reviewed IFT52 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||