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Fetal anomalies

Gene: TBX6

Green List (high evidence)

TBX6 (T-box 6)
EnsemblGeneIds (GRCh38): ENSG00000149922
EnsemblGeneIds (GRCh37): ENSG00000149922
OMIM: 602427, Gene2Phenotype
TBX6 is in 4 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed.
Created: 11 Dec 2018, 9:05 a.m.


Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • PAGE Additional Gene List
  • Expert Review Green
  • Spondylocostal dysostosis 5 122600
Clinvar variants
Variants in TBX6
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: TBX6 was added gene: TBX6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: TBX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TBX6 were set to Spondylocostal dysostosis 5 122600