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Table 2 Components of the structured narrative describing the gene-disease mechanism

From: Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

1. Gene name: HUGO Gene Nomenclature Committee (HGNC) gene symbols [27]
2. Associated disease: Monarch Disease Ontology (MONDO) terms [28]
3. Mode of inheritance: structured MONDO terms
 (a) Autosomal dominant (HP:0000006)
 (b) Autosomal recessive (HP:0000007)
 (c) Mitochondrial (HP:0001427)
 (d) X-linked (HP:0001417)
 (e) Undetermined (HP:0000005)
4. Molecular mechanism of disease pathogenesis:
 (a) Loss-of-function
 (b) Gain-of-function
 (c) Dominant-negative
5. Biological pathways: Gene Ontology (GO) terms [29, 30]