NKX2.5-related congenital, conduction and myopathic heart disease
Findings
No curated finding names NKX2.5-related congenital, conduction and myopathic heart disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A heart disease that includes congenital heart defects, abnormal cardiac conduction or myopathy. Congenital heart defects consists of any heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and hypoplastic left heart syndrome.
Definition from the Mondo Disease Ontology (MONDO:0800441), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NKX2-5HGNC:2488
- Definitive · ClinGen · Autosomal dominant · 2024
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
1 name
Resolves to: NKX2.5-related congenital, conduction and myopathic heart disease
- Also called
- NKX2-5-related congenital, conduction and myopathic heart disease