TableĀ 1

Factors that increase the likelihood of monogenic disease and/or facilitate the interpretation of genome-wide data

Family historySimilarly affected individuals
Recognizable pattern of inheritance
PhenotypeSeverity of phenotype
Specificity of clinical presentation (eg, neuropathy, metabolic disease)
Clinical interpretationCareful patient phenotyping (eg, detailed physical exam, imaging, chemistry)
Normal chromosomal microarray analysis and other relevant laboratory testing
Exclusion of acquired causes (eg, infection)