Skeletal dysplasia
Gene: IFT140
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
Short-rib thoracic dysplasia 9 with of without polydactyly, 266920
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: IFT140; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Tier 1Created: 17 Jun 2016, 8:05 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 9 with or without polydactyly 266920
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Short-rib thoracic dysplasia 9 with of without polydactyly, 266920 for gene: IFT140
Source NHS GMS was added to IFT140. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for IFT140 were set to Short-rib thoracic dysplasia 9 with of without polydactyly, 266920
This gene has been classified as Green List (High Evidence).
IFT140 was added to Unexplained skeletal dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services IFT140 was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene IFT140 was set to BIALLELIC, autosomal or pseudoautosomal
IFT140 was added to Unexplained skeletal dysplasiapanel. Sources:
IFT140 was created by sleigh