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Cohort type
Currently, phenoboard supports two cohort types.
1. Mendelian
A Mendelian disorder is caused by a pathogenic variant (or variants) in a single gene, and follows one of the classic patterns of inheritance — autosomal dominant, autosomal recessive, or X-linked. The phenotypic profile of an affected individual is attributed to that one gene, in contrast to blended phenotypes, where features arise from independent variants in two or more genes. Mendelian disorders have historically driven much of our mechanistic understanding of pathogenic mutations and gene regulation, and remain the foundation of clinical molecular diagnosis, even as attention in the field has increasingly shifted toward complex, multifactorial traits.
In Phenoblend, Mendelian disorders are specified by the corresponding OMIM identifier.
2. Blended
Multiple genetic diagnoses (MGDs) are increasingly being recognized in individuals and families with Mendelian disorders. Individuals with MGDs may present with blended phenotypes (in which phenotypic features corresponding to diseases associated with two or more genes are observed). That is, the phenotypic profiles of affected individuals result from a “blend” of the clinical manifestations of each disease, whereby individual features can either be assigned to a specific disease or be attributed to more than one disease, for which reason the term “blended phenotype” is also used in the literature. In some cases, phenotypic features of one disease may be observed to obscure or dominate those of the other diseases. MGDs involving clinically related diseases (e.g., variants in two or more genes associated with cardiomyopathy) may be associated with a higher-than-usual degree of clinical severity.
In Phenoblend, Mendelian disorders are specified by ombinations of OMIM identifiers.