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Hypertrophic cardiomyopathy

Gene: TBX1

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

2 reviews

Ida Ertmanska (Genomics England Curator)

Red List (low evidence)

PMID: 41130538 Zhang et al., 2025
Chinese family with adult-onset HCM. Variant in TBX1 (NM_080647.1):c.3_27dup (p.Met10Alafs∗167) co-segregated with disease. Seq method: WES. 5 heterozygous individuals were diagnosed with HCM (aged 31-69yrs) and 3 other members who had the variant were asymptomatic (aged 10-44yrs). Female carriers appear to develop disease at a later age.

This gene is not yet associated with HCM in OMIM (accessed 19th Dec 2025).
Created: 19 Dec 2025, 12:44 p.m. | Last Modified: 19 Dec 2025, 12:44 p.m.
Panel Version: 5.23

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

Phenotypes
Hypertrophic cardiomyopathy, HP:0001639

Publications

Created: 19 Dec 2025, 12:44 p.m.
Last Modified: 19 Dec 2025, 12:44 p.m.
Panel version: 5.23

Riyaad Aungraheeta (Bristol Genetics Laboratory)

I don't know

Sources: Literature
Created: 8 Dec 2025, 8:14 p.m.

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

Phenotypes
Hypertrophic cardiomyopathy

Publications

Created: 8 Dec 2025, 8:14 p.m.

Panel version: 5.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Hypertrophic cardiomyopathy, HP:0001639
OMIM
602054
Clinvar variants
Variants in TBX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Dec 2025, Gel status: 1

Set publications

Ida Ertmanska (Genomics England Curator)

Publications for gene: TBX1 were set to PMID: 41130538

19 Dec 2025, Gel status: 1

Set Phenotypes

Ida Ertmanska (Genomics England Curator)

Phenotypes for gene: TBX1 were changed from Hypertrophic cardiomyopathy to Hypertrophic cardiomyopathy, HP:0001639

19 Dec 2025, Gel status: 1

Entity classified by Genomics England curator

Ida Ertmanska (Genomics England Curator)

Gene: tbx1 has been classified as Red List (Low Evidence).

8 Dec 2025, Gel status: 0

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

Riyaad Aungraheeta (Bristol Genetics Laboratory)

gene: TBX1 was added gene: TBX1 was added to Hypertrophic cardiomyopathy. Sources: Literature Mode of inheritance for gene: TBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TBX1 were set to PMID: 41130538 Phenotypes for gene: TBX1 were set to Hypertrophic cardiomyopathy Review for gene: TBX1 was set to AMBER