Additional file 3 of Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions

Additional file 3: Table S1. A table showing the curation of syndromic forms of (hypertrophic) cardiomyopathy that can have isolated left ventricular hypertrophy as the presenting feature: structured representation of inheritance, allelic requirement, disease-associated variant consequence, and variant classes reported with evidence of pathogenicity for each gene-disease pair. Tables S2–S5. Details of the filtering process of each pipeline for the 3 datasets (Table S2 - Set 1, Table S3 - Set2a and Table S4 -Set2b). Details of the demographics of the cohorts used in Set2a and Set2b are available in Table S5. Tables S6–S8. The same information that is presented in Additional File 2 is included here in xls format. Table S6. (CardiacG2P) includes a structured representation of inheritance and mechanism data for all curated gene-disease pairs. In addition this also includes information for 7 genes related to a syndrome where LVH is seen only with overt syndromic features. Table S7. (Narr_sum) has narrative summaries for each gene-disease pair as plain free text. Table S8. (Other_limited) is a list of gene-disease pairs where there is no established relationship (gene disease validity assertion from ClinGen); these are included for completeness.