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  2. Familial non syndromic congenital heart disease
  3. TBX1
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Familial non syndromic congenital heart disease

Gene: TBX1

Red List (low evidence)
TBX1 (T-box 1)
EnsemblGeneIds (GRCh38): ENSG00000184058
EnsemblGeneIds (GRCh37): ENSG00000184058
OMIM: 602054, Gene2Phenotype
TBX1 is in 10 panels

4 reviews

Bernard Keavney (The University of Manchester)

Red List (low evidence)

Created: 5 Nov 2017, 2:46 a.m.

Panel version: Imported from "Congenital heart disease" panel version Imported from "Fallots tetralogy" panel version 0

Alice Gardham (Genomics England)

Comment when marking as ready: Insufficient evidence that mutations cause non syndromic heart disease.
Created: 28 Nov 2016, 3:01 p.m.
Created: 28 Nov 2016, 3:01 p.m.

Panel version: 0.7

Ellen McDonagh (Genomics England Curator)

This is a confirmed DD gene for 22Q11.2 deletion syndrome.
Created: 22 Jul 2016, 9:05 a.m.

Phenotypes
22Q11.2 deletion syndrome

Publications

Created: 22 Jul 2016, 9:05 a.m.

Panel version: Imported from "Congenital heart disease" panel version 0.5

Kirsty McCaffrey (Manchester Centre for Genomic Medicine)

I don't know

Tetralogy of Fallot is commonly seen in patients with a chromosome 22q11.2 deletion, which causes the loss of TBX1.

This paper demonstrated the presence of TBX1 variants (SNPs and deletions) in individuals with non-syndromic Tetralogy of Fallot, but however does not support the inclusion of this gene in clinical practice due to the low percent of mutations linked to susceptibility to non-syndromic Tetralogy of Fallot.
Created: 2 Jun 2016, 1:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Tetralogy of Fallot

Publications

  • doi:10.1136/hrt.2010.200121

Created: 2 Jun 2016, 1:27 p.m.

Panel version: Imported from "Congenital heart disease" panel version 0.3

History Filter Activity

26 Jan 2017, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January

28 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

28 Nov 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TBX1 was created by ellenmcdonagh

28 Nov 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TBX1 was added to Familial non syndromic congenital heart diseasepanel. Sources: Radboud University Medical Center, Nijmegen