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.

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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.