Skeletal dysplasia
Gene: CDT1
Listed in Patellar dysostoses gp of SD. AR. Greater than 3 cases reported.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meier-Gorlin syndrome 4 613804
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: CDT1; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least five variants reportedCreated: 28 Jul 2016, 7:48 a.m.
Tier 1Created: 17 Jun 2016, 8:02 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ear-patella-short stature syndrome (Meier-Gorlin syndrome 4) 613804
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Meier-Gorlin syndrome 4 613804 for gene: CDT1
Source NHS GMS was added to CDT1. 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).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for CDT1 were set to Meier-Gorlin syndrome 4 613804
Mode of inheritance for CDT1 was changed to BIALLELIC, autosomal or pseudoautosomal
CDT1 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN
CDT1 was created by sleigh
CDT1 was added to Unexplained skeletal dysplasiapanel. Sources: