Table 3.
Hypothetical forms for complex heritability from Mendelian nephrotic syndrome (NS) genes
Form of Inheritance | Description | Example |
---|---|---|
“Risk Allele” | Heterozygosity for a variant in a recessive NS gene OR heterozygosity for a variant in a dominant NS gene that does not fulfill characteristics of a Mendelian allele, whether in terms of allele frequency, conservation, or predicted impact on function | Heterozygosity for MYO1E p.I384T |
“Oligogenicity” | Heterozygosity for a single pathogenic allele in multiple genes. Each variant allele is alone solely insufficient to cause phenotype but combined effect contributes to phenotype | Heterozygous for CD2AP p.M496I, AND heterozygous for NPHS2 p.A208T |