Skeletal dysplasia
Gene: TBX15
Limb hypoplasia-reduction defects gp of SD. 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
Cousin syndrome 260660
Publications
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: TBX15; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Comment when marking as ready: At least three variants reported in this phenotypeCreated: 12 Jul 2016, 1:28 p.m.
Tier 1Created: 17 Jun 2016, 8:08 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cousin syndrome 260660
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Cousin syndrome 260660 for gene: TBX15
Source NHS GMS was added to TBX15. 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 TBX15 were set to Cousin syndrome 260660
Publications for TBX15 were set to 24039145
Mode of inheritance for TBX15 was changed to BIALLELIC, autosomal or pseudoautosomal
TBX15 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,UKGTN
TBX15 was added to Unexplained skeletal dysplasiapanel. Sources:
TBX15 was created by sleigh