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  3. TBX20
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Dilated and arrhythmogenic cardiomyopathy

Gene: TBX20

Green List (high evidence)
TBX20 (T-box 20)
EnsemblGeneIds (GRCh38): ENSG00000164532
EnsemblGeneIds (GRCh37): ENSG00000164532
OMIM: 606061, Gene2Phenotype
TBX20 is in 8 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 6 Dec 2024, 9:37 a.m. | Last Modified: 6 Dec 2024, 9:37 a.m.
Panel Version: 2.35

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Created: 6 Dec 2024, 9:37 a.m.
Last Modified: 6 Dec 2024, 9:37 a.m.
Panel version: 2.35

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Three TBX20 variants have been associated with Atrial septal defect 4, in OMIM and Gen2Phen (PMID:17668378; 19762328) and seven TBX20 variants have been associated with Left ventricular noncompaction (LVNC)(PMID:37657916; 29089047; 35282022).
Created: 4 Jun 2024, 4:44 p.m. | Last Modified: 4 Jun 2024, 4:44 p.m.
Panel Version: 2.31
Three TBX20 variants have been associated with Atrial septal defect 4, in OMIM and Gen2Phen (PMID:17668378; 19762328) and seven TBX20 variants have been associated with Left ventricular noncompaction (LVNC)(PMID:37657916; 29089047; 35282022).
Created: 4 Jun 2024, 4:42 p.m. | Last Modified: 4 Jun 2024, 4:42 p.m.
Panel Version: 2.31
Created: 4 Jun 2024, 4:42 p.m.
Last Modified: 4 Jun 2024, 4:42 p.m.
Panel version: 2.31

Ivone Leong (Genomics England Curator)

I don't know

New gene submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.
Created: 3 Dec 2019, 2:28 p.m. | Last Modified: 3 Dec 2019, 2:28 p.m.
Panel Version: 0.52
Created: 3 Dec 2019, 2:28 p.m.
Last Modified: 3 Dec 2019, 2:28 p.m.
Panel version: 0.52

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Atrial septal defect 4, OMIM:611363
  • atrial septal defect 4, MONDO:0012654
  • Dilated cardiomyopathy, MONDO:0005021
OMIM
606061
Clinvar variants
Variants in TBX20
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2024, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_24_promote_green was removed from gene: TBX20.

6 Dec 2024, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to TBX20. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

4 Jun 2024, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_24_promote_green tag was added to gene: TBX20.

4 Jun 2024, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: TBX20 were set to 17668378; 19762328; 37657916

4 Jun 2024, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: TBX20 were changed from Atrial septal defect 4, OMIM:611363; atrial septal defect 4, MONDO:0012654 to Atrial septal defect 4, OMIM:611363; atrial septal defect 4, MONDO:0012654; Dilated cardiomyopathy, MONDO:0005021

3 Jun 2024, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: TBX20 were set to

3 Jun 2024, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: TBX20 were changed from to Atrial septal defect 4, OMIM:611363; atrial septal defect 4, MONDO:0012654

3 Dec 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: TBX20 was added gene: TBX20 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: TBX20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown