Familial non syndromic congenital heart disease

Gene: TBX20

Amber List (moderate evidence)

TBX20 (T-box 20)
EnsemblGeneIds (GRCh38): ENSG00000164532
EnsemblGeneIds (GRCh37): ENSG00000164532
OMIM: 606061, Gene2Phenotype
TBX20 is in 7 panels

1 review

Alice Gardham (Genomics England)

I don't know

Identified in at least three families. Recognised on G2P. Testing offered in a small number of labs in Europe
May have loss of function and gain of function mutations
Created: 28 Nov 2016, 4:15 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Atrial septal defect 4 611363

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Atrial septal defect 4 611363
OMIM
606061
Clinvar variants
Variants in TBX20
Penetrance
Complete
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

26 Jan 2017, Gel status: 2

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January

28 Nov 2016, Gel status: 2

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Amber List (Moderate Evidence).

28 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

TBX20 was created by agardham

28 Nov 2016, Gel status: 1

Added New Source

Alice Gardham (Genomics England)

TBX20 was added to Familial non syndromic congenital heart diseasepanel. Sources: Radboud University Medical Center, Nijmegen