Fig. 1
From: Insights into genetics, human biology and disease gleaned from family based genomic studies
Centers for Mendelian Genomics (CMG) disease gene discovery through 31 May 2018 (year 7, quarter 2) by the four centers. Discoveries are defined as “novel” if (1) the causal variant was identified in a gene not previously associated with a Mendelian phenotype at the time of case acceptance to the study (i.e., novel gene), or (2) the causal variant was identified in association with a Mendelian phenotype with a MIM number (a known phenotype) and for which no causal variants had previously been reported (i.e., novel gene, unexplained known phenotype), or (3) the causal variant was identified in association with a Mendelian phenotype with no MIM number and for which no variants in the identified gene had been previously reported as causal of a Mendelian phenotype (i.e., novel gene, new phenotype). Graph of discoveries (genotype–phenotype pairs) categorized as novel, phenotypic expansion, or known. Discoveries are classified as either tier 1 (blue bars) or tier 2 (orange bars, not meeting tier 1 definition). Tier 1 genes include high confidence genes reported by individual centers as tier 1, defined as having been identified in either (1) multiple kindreds with shared phenotypic features and likely pathogenic variants in the same gene, or (2) a single family plus a model organism with orthologous phenotypic features, or (3) a single family with supportive functional and mapping data. Pheno expan phenotypic expansion.
