Gene filters
The Gene Filters allow filtering variants by specific genes or regions based on clinical relevance, functional significance, or enrichment kit.
Disease-associated genes: Genes with a published disease association.
Unknown genes: Genes of unknown clinical significance.
ACMG genes: Clinically actionable genes as defined by ACMG:
v100.39.0+: 84 genes (Lee et al. 2025)
≤v38.0: 81 genes (Miller et al. 2023)
Cancer-associated genes: Genes that have a documented association with cancer.
LoF-intolerant genes: Extremely LoF-intolerant genes with gnomAD pLI ≥ 0.9.
If a variant is a CNV or insertion and overlaps multiple genes, it is included in the results as long as at least one of the overlapped genes has pLI ≥ 0.9.
mtDNA variants are excluded, because mitochondrial genes are not represented in the gnomAD pLI dataset.
Requires Knowledge base 26+.
Established HI/TS genes: Genes with ClinGen haploinsufficiency and/or triplosensitivity score of 3.
mtDNA variants are excluded, because mitochondrial genes are not represented in the ClinGen dosage sensitivity dataset.
Requires Knowledge base 26+.
Coding regions: Protein-coding sequences.
In targeted regions: Enrichment kit regions selected at case creation (falls back to RefSeq coding if no kit is provided).
Candidate genes: Gene list defined during case creation. The filter is not available in cases run without a gene list.
Default values
Cases without a gene list
When Filters are reset to default, the Gene filters are not applied.
Cases with a gene list
When filters are reset to default, the Gene filters are set to:
Candidate genes
Active
Other Gene filters
No restriction
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