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Hypertrophic 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. The reviewers note that the gene is associated with LVNC rather than specifically HCM, but suitable for HCM panel on the basis of LVNC existing with HCM.
Created: 6 Dec 2024, 6:49 p.m. | Last Modified: 6 Dec 2024, 6:49 p.m.
Panel Version: 4.19

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

Created: 6 Dec 2024, 6:49 p.m.
Last Modified: 6 Dec 2024, 6:49 p.m.
Panel version: 4.19

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.
Copied from panel: Dilated and arrhythmogenic cardiomyopathy v2.31

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.
Copied from panel: Dilated and arrhythmogenic cardiomyopathy v2.31

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

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

Sarah Leigh (Genomics England Curator)

gene: TBX20 was added gene: TBX20 was added to Hypertrophic cardiomyopathy. Sources: Expert Review Amber,NHS GMS Q2_24_promote_green tags were added to gene: TBX20. Mode of inheritance for gene: TBX20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TBX20 were set to 17668378; 19762328; 37657916; 33585493; 29089047; 35282022 Phenotypes for gene: TBX20 were set to Atrial septal defect 4, OMIM:611363; atrial septal defect 4, MONDO:0012654; Dilated cardiomyopathy, MONDO:0005021