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| Mendeliome v2.633 | FAM222B |
Eleanor Ludington gene: FAM222B was added gene: FAM222B was added to Mendeliome. Sources: Literature Mode of inheritance for gene: FAM222B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FAM222B were set to 42632841 Phenotypes for gene: FAM222B were set to Congenital heart disease MONDO:0005453 Review for gene: FAM222B was set to GREEN Added comment: PMID 42632841 reports 13 individuals from 7 families with heterozygous missense or in‑frame deletion variants in FAM222B causing dominant congenital heart disease including atrial septal defects, ventricular septal defects, atrioventricular septal defects and bicuspid aortic valve, as well as left isomerism in two individuals. Zebrafish models undertaken as part of this research were also supportive of pathogenic variants in FAM222B resulting in abnormal cardiogenesis. Sources: Literature |
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