Two of the genes have been implicated in autosomal recessive diseases, and heterozygosity is unlikely to be pathogenic (PROP1, NDUFAF5), while for the 3 remaining variants a causative role was unconvincing based on literature review, variant frequency in cancer databases, and documented associations of loci with human traits (FRMPD2, PCDH1, RHOT1). The gene discussed is PCDH1; the disease is autosomal recessive disease.