has material basis in germline mutation in TFAP2B congenital heart disease cardiogenetic disease TFAP2B-related congenital heart disease spectrum disorder https://github.com/monarch-initiative/mondo/issues/8256 TFAP2B-related PDA and Char syndrome spectrum disorder Any congenital heart disease caused by pathogenic variation(s) in the TFAP2B gene, which encodes the transcription factor AP-2β. This disorder is characterized by patent ductus arteriosus, facial dysmorphism and hand anomalies. Additional features include sensorineural hearing loss, scoliosis, dental anomalies, and central diabetes insipidus. Given the spectrum of symptoms associated with this condition, patients may exhibit a combination of these features. The underlying mechanism of the spectrum disorder is both dominant negative and loss-of-function. Pathogenic missense variants reported in Char syndrome patients appear to be dominant negative while loss-of-function alleles in PDA patients are likely to act through haploinsufficiency. MONDO:1010098 Two overlapping clinical presentations have been associated with TFAP2B mutations; Char syndrome (MIM:169100) and Patent ductus arteriosus 2 (MIM:617035). These phenotypes have been grouped together into one disease entity: TFAP2B - related PDA and Char syndrome spectrum disorder https://clinicalgenome.org/affiliation/40060/.