Table 3 Evaluating priorities for cases and situations that are relatively higher or lower priority for consideration by the current UDN MOSC

1. Unsolved cases

2. Novel candidate disease-causing genes

3. Potential phenotype expansions (novel variants in known disease-causing genes, but with unique phenotypes)

1. Potential complex multi-gene interactions including large copy number variants

2. Somatic or mosaic variation or risk alleles with low penetrance

3. Suspected environmental triggers

4. Potentially solved cases, including variants of uncertain significance (VUS) in known disease-causing genes with a phenotype match

1. Developing treatment or performing drug screens

2. Generating models for known genetic disorders

3. Genes that are not feasible with available tools or are cost prohibitive, such as those with no worm ortholog, human cDNA not available for fly, and duplicated genes in zebrafish