VACTERL-like phenotypes

Gene: TBX5

Green List (high evidence)

TBX5 (T-box 5)
EnsemblGeneIds (GRCh38): ENSG00000089225
EnsemblGeneIds (GRCh37): ENSG00000089225
OMIM: 601620, Gene2Phenotype
TBX5 is in 10 panels

2 reviews

Muriel Holder (Clinical Genetics, Guy's Hospital)

Green List (high evidence)

Ellen Thomas (Genomics England Curator)

Comment on list classification: Causes Holt-Oram syndrome which has significant phenotypic overlap with VACTERL
Created: 27 May 2016, 11:21 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
OMIM
601620
Clinvar variants
Variants in TBX5
Penetrance
Complete
Panels with this gene

History Filter Activity

27 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for TBX5 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

27 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

TBX5 was added to VACTERL-like phenotypepanel. Sources: Emory Genetics Laboratory