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| Dilated and arrhythmogenic cardiomyopathy v2.37 | TAX1BP3 | Achchuthan Shanmugasundram Classified gene: TAX1BP3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v2.37 | TAX1BP3 | Achchuthan Shanmugasundram Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v2.37 | TAX1BP3 | Achchuthan Shanmugasundram Gene: tax1bp3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v2.36 | TAX1BP3 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v2.36 | TAX1BP3 |
Achchuthan Shanmugasundram commented on gene: TAX1BP3: 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. |
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| Dilated and arrhythmogenic cardiomyopathy v2.36 | TAX1BP3 | Achchuthan Shanmugasundram reviewed gene: TAX1BP3: Rating: AMBER; Mode of pathogenicity: None; Publications: 39963794; Phenotypes: Arrhythmogenic cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v2.36 | TAX1BP3 |
Riyaad Aungraheeta 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 Added comment: Sources: Literature |
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