Skeletal dysplasia
Gene: IFT172
Cilliopathies with major skeletal involvement gp of SDs - >3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SRTD10; Short-rib thoracic dysplasia 10 with or without polydactyly, 615630
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: IFT172; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 12:55 p.m.
Tier 1Created: 17 Jun 2016, 8:05 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa 71 616394; Short-rib thoracic dysplasia 10 with or without polydactyly 615630
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Short-rib thoracic dysplasia 10 with or without polydactyly, 615630; SRTD10 for gene: IFT172
Source NHS GMS was added to IFT172. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Mode of inheritance for IFT172 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
IFT172 was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen
IFT172 was added to Unexplained skeletal dysplasiapanel. Sources:
IFT172 was created by sleigh