To date, ID2 has not been reported in relation to congenital heart disease in humans. One missense mutation in ID2 was reported in a human causing developmental and epileptic encephalopathy, however the congenital heart phenotype was not mentioned (PMID: 31175295). The mechanism of disease is unknown. This gene-disease relationship is supported by two expression studies in the heart (PMID: 15472070, 17604724), and one mouse model that exhibits features of congenital heart disease including atrioventricular septal defect (PMID: 21330551). In summary, the evidence to support the gene-disease relationship between ID2 and congenital heart disease is disputed. More evidence is needed to either support or entirely refute the role ID2 plays in this disease. This classification was approved by the ClinGen Congenital Heart Disease GCEP on the meeting date 11/27/2023 (SOP Version 10)
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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