Skeletal dysplasia
Gene: TBX15

TBX15 (T-box 15)
EnsemblGeneIds (GRCh38): ENSG00000092607
EnsemblGeneIds (GRCh37): ENSG00000092607
OMIM: 604127, Gene2Phenotype
TBX15 is in 7 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Limb hypoplasia-reduction defects gp of SD. At least 3 cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cousin syndrome 260660

Publications

24039145

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

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: green
Created: 6 Mar 2019, 11:37 a.m.

Created: 6 Mar 2019, 11:37 a.m.

Panel version: 1.146

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: At least three variants reported in this phenotype
Created: 12 Jul 2016, 1:28 p.m.

Created: 12 Jul 2016, 1:28 p.m.

Panel version: 0.610

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 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

Created: 17 Jun 2016, 8:08 a.m.

Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
Radboud University Medical Center, Nijmegen
Expert list
UKGTN
Emory Genetics Laboratory

Phenotypes

Cousin syndrome 260660

OMIM

604127

Clinvar variants

Variants in TBX15

Penetrance

Complete

Publications

24039145

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Cousin syndrome 260660 for gene: TBX15

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to TBX15. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4