Figure 1.
American College of Medical Genetics (ACMG) variant criteria for all cases within the frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) and Parkinson’s disease-dementia with Lewy bodies (PD-DLB) cohorts that had >1 variant within their respective disease panels at 1% MAF. The relative combination of alleles can be seen in the top right of each cohort’s chart. Key references to ACMG classification of each variant: P, pathogenic; LP, likely pathogenic; RF, risk factor; PR, pathogenic in the recessive state (but considered likely benign in the heterozygous state); LB, likely benign; US, uncertain significance; UC, uncategorised.