Skeletal dysplasia
Gene: CANT1
AR. 251450 Listed in Dysplasias with multiple joint dislocations gp of SD. Multiple cases reported. 617719 not listed in SD nosology paper - 2 cases reported so far. Green for 251450. Amber for 617719.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Desbuquois dysplasia 1 251450; multiple epiphyseal dysplasia type 7, 617719.
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: CANT1; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Numerous variants reported in this phenotypeCreated: 11 Jul 2016, 12:02 p.m.
Tier 1Created: 17 Jun 2016, 8:02 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Desbuquois dysplasia 1 251450
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Desbuquois dysplasia 1 251450; multiple epiphyseal dysplasia type 7, 617719. for gene: CANT1
Source NHS GMS was added to CANT1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for CANT1 were set to Desbuquois dysplasia 1 251450
Mode of inheritance for CANT1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
CANT1 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Expert list,UKGTN
CANT1 was added to Unexplained skeletal dysplasiapanel. Sources:
CANT1 was created by sleigh