Skeletal dysplasia
Gene: IFT122
Cilliopathies with major skeletal involvement gp of SDs. At least 3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cranioectodermal dysplasia 1 218330
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: IFT122; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 12 Jul 2016, 8:38 a.m.
Tier 1Created: 17 Jun 2016, 8:05 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cranioectodermal dysplasia 1 218330
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Cranioectodermal dysplasia 1 218330 for gene: IFT122
Source NHS GMS was added to IFT122. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for IFT122 were set to Cranioectodermal dysplasia 1 218330
Mode of inheritance for IFT122 was changed to BIALLELIC, autosomal or pseudoautosomal
IFT122 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
IFT122 was created by sleigh
IFT122 was added to Unexplained skeletal dysplasiapanel. Sources: