Genomics England
GMS Panels
Panels
Genes and Entities

TBX6

T-box 6
OMIM: 602427
PanelMode of inheritanceDetails
2 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spondylocostal dysostosis 5 122600
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spondylocostal dysostosis 5 122600, Spondylocostal dysostosis 5 122600