Retinal disordersGene: IFT81
Gene has been predominantly associated with severe short-rib thoracic dysplasia with no retinopathy reported. Isolated retinopathy reported in one individual, PMID 28460050, and an NCL-like phenotype in another in PMID 26275418. Overall, good evidence this is a ciliopathy gene, but moderate evidence for retinal phenotype.
Created: 12 Oct 2020, 12:04 a.m. | Last Modified: 12 Oct 2020, 12:04 a.m.
Panel Version: 2.17
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895
Submitted on behalf of the GMS Eye specialist group. These genes are also from RetNet. There is currently not enough evidence to rate these genes Green, therefore they have been given an Amber rating.
Created: 27 Dec 2019, 9:10 a.m. | Last Modified: 27 Dec 2019, 9:10 a.m.
Panel Version: 2.5
Phenotypes for gene: IFT81 were changed from to Short-rib thoracic dysplasia 19 with or without polydactyly, OMIM:617895,MONDO:0033485
Mode of inheritance for gene: IFT81 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT81 were set to
gene: IFT81 was added gene: IFT81 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: IFT81 was set to