Renal ciliopathiesGene: IFT172
Comment on list classification: A number of publications identify relationship of variants in IFT172 and phenotypes associated with Bardet-Biedl syndrome and Jeune and Mainzer-Saldino Syndromes, all are ciliopathy diseases. The range of phenotypes can result in serve skeletal and multiple affected organs but also includes a reported case of non-syndromic retinal dystrophy.
Sufficient numbers of unrelated individuals reported to have kidney dysfunction to include IFT172 as Green on the panel.
Created: 30 Mar 2020, 1:28 p.m. | Last Modified: 30 Mar 2020, 1:28 p.m.
Panel Version: 1.9
Nephronophthisis is a recognised feature of this ciliopathy.
Sources: Expert list
Created: 3 Jan 2020, 4:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630
Gene: ift172 has been classified as Green List (High Evidence).
Publications for gene: IFT172 were set to
gene: IFT172 was added gene: IFT172 was added to Renal ciliopathies. Sources: Expert list Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT172 were set to Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630 Review for gene: IFT172 was set to GREEN