Gene Filters

The Gene Filters allow filtering variants by genes or specific regions:

• All Disease Associated Genes - variants in the genes with a published disease association;

• All Unknown Genes - variants in the genes of unknown clinical significance;

• Candidate Genes - variants in a Gene list if defined during case creation;

• All ACMG genes - variants in the clinically actionable genes defined by the ACMG:

  • Versions 30.0+: 81 genes (Miller et al. 2023);

  • Versions <30.0: 78 genes (Miller et al. 2022).

• Cancer Associated Genes - variants in genes with published association with oncological disease;

• LoF Genes (Emedgene Knowledgebase 26+) - variants in extremely LoF intolerant genes (gnomAD pLI ≥ 0.9). Note: if a variant is a CNV that overlaps more than one gene, it will appear in the filtering results if at least one of the genes has gnomAD pLI ≥ 0.9);

• Established HI/TS Genes (Emedgene Knowledgebase 26+) - variants in genes with sufficient evidence of dosage sensitivity (defined by having ClinGen's Haploinsufficiency and/or Triplosensitivity scores of 3);

• Coding regions - variants restricted to the protein-coding sequences.

• In Targeted Regions - variants in the regions defined by the Enrichment Kit selected while creating a case.RefSeq coding regions will be used as a reference if no kit is provided.

Default values

When Filters are Reset to Default, the Gene Filters remain disabled, except for cases launched in Virtual panel mode of the Gene list. In such a case, the Candidate Genes filter is activated by default.