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| Laterality disorders and isomerism v5.3 | FAM222B |
Philippa May gene: FAM222B was added gene: FAM222B was added to Laterality disorders and isomerism. Sources: Literature Mode of inheritance for gene: FAM222B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FAM222B were set to PMID: 42632841 Phenotypes for gene: FAM222B were set to situs inversus totalis; heterotaxy; isolated congenital heart defects Penetrance for gene: FAM222B were set to unknown Added comment: Predominantly missense/in-frame deletions reported. Several consistent cases in CVA, frequently de novo - submitted to Diagnostic Discovery. Not currently on our NGS panel but likely to be added in next version. Sources: Literature |
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