TBX20 was first reported in relation to autosomal dominant congenital heart disease in 2007 (Kirk et al.,(2007) PMID:17668378). Eleven variants (missense, nonsense) that have been reported in eleven probands in seven publications (PMID:17668378, 19762328,18834961, 25183037,27510170, 28553164, 37481008) are included in this curation. This gene-disease relationship is also supported by animal models and protein interaction experimental evidence with GATA4 and NKX2.5 which are two genes that have been definitively associated with isolated congenital heart disease (PMID: 14550786, 15843414,19494035, 22328084). In summary, there is moderate evidence to support this gene-disease relationship. While more evidence is needed to establish this relationship definitively, no convincing contradictory evidence has emerged. This classification was approved by the ClinGen Congenital Heart Disease GCEP on the meeting date May 7th 2024 (SOP Version 10).
TBX20 was first reported in relation to autosomal dominant congenital heart disease in 2007 (Kirk et al.,(2007) PMID:17668378). Eleven variants (missense, nonsense) that have been reported in eleven probands in seven publications (PMID:17668378, 19762328,18834961, 25183037,27510170, 28553164, 37481008) are included in this curation. This gene-disease relationship is also supported by animal models and protein interaction experimental evidence with* GATA4* and NKX2.5 which are two genes that have been definitively associated with isolated congenital heart disease (PMID: 14550786, 15843414,19494035, 22328084). In summary, there is moderate evidence to support this gene-disease relationship. While more evidence is needed to establish this relationship definitively, no convincing contradictory evidence has emerged. This classification was approved by the ClinGen Congenital Heart Disease GCEP on the meeting date May 7th 2024 (SOP Version 10).
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