Dilated and arrhythmogenic cardiomyopathy
Gene: TAX1BP3EnsemblGeneIds (GRCh38): ENSG00000213977
EnsemblGeneIds (GRCh37): ENSG00000213977
OMIM: 616484, Gene2Phenotype
TAX1BP3 is in 1 panel
2 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: This gene should be rated amber with current evidence as there is only one family and functional work in support of the disease association.Created: 10 Apr 2025, 10:48 a.m. | Last Modified: 10 Apr 2025, 10:48 a.m.
Panel Version: 2.37
PMID:39963794 reported a kindred with multiple members affected by arrhythmogenic cardiomyopathy (ACM) cosegregating with biallelic TAX1BP3 variants (~28 kb deletion encompassing the entire gene and missense variant p.(Met78Thr)). Three affected siblings from the family had the bialleic variants which were absent in an unaffected sister. Carrier parents were normal.
Experimental work on patient-derived induced pluripotent stem cell cardiac myocytes and a knockout mouse model showed that loss of TAX1BP3 causes calcium dysregulation in cardiomyocytes, which is a known mechanism for arrhythmia.
This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.Created: 3 Apr 2025, 2:38 p.m. | Last Modified: 3 Apr 2025, 2:38 p.m.
Panel Version: 2.36
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arrhythmogenic cardiomyopathy
Publications
Riyaad Aungraheeta (Bristol Genetics Laboratory)
Sources: LiteratureCreated: 19 Feb 2025, 10:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arrhythmogenic cardiomyopathy
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Arrhythmogenic cardiomyopathy
- OMIM
- 616484
- Clinvar variants
- Variants in TAX1BP3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: tax1bp3 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Riyaad Aungraheeta (Bristol Genetics Laboratory)gene: TAX1BP3 was added gene: TAX1BP3 was added to Dilated and arrhythmogenic cardiomyopathy. Sources: Literature Mode of inheritance for gene: TAX1BP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAX1BP3 were set to 39963794 Phenotypes for gene: TAX1BP3 were set to Arrhythmogenic cardiomyopathy Review for gene: TAX1BP3 was set to AMBER