Documentation / Screening / Gene Panels and Custom Genes
Gene Panels and Custom Genes
A gene panel is both a scope boundary and a source of curated clinical context. Screening loads variants only from the resolved gene set, then uses panel metadata alongside the standard component scores and patient context.
Panels Restrict the Search Space
Selecting a panel does not merely boost its genes after a genome-wide screen. The selected panel genes define which classified variants are loaded into Screening. Add custom genes when the clinical question extends beyond the selected panels.
How the Gene Set Is Resolved
Panels only
The union of genes in the selected panels is screened.
Custom genes only
Only the supplied custom genes are screened.
Panels and custom genes
The two sets are combined. If the same symbol occurs in both, the custom-gene metadata takes precedence for that run.
No panel or custom gene
Folklore uses a built-in fallback assembled from its current secondary-findings, pediatric, adult-onset, and carrier lists. It does not screen every annotated gene.
Panel Gene Metadata
| Field | Use in Screening |
|---|---|
| Gene symbol | Defines the gene in scope. Managed panel entries are validated against the deployed HGNC symbol index and aliases are normalized to an approved symbol. |
| Disease name and display label | Provides human-readable panel context in screening results and reports. |
| Age relevance | Records neonatal, pediatric, adult, or all-age relevance for age-aware prioritization. |
| Priority score | Provides a bounded panel-specific prioritization value from 0.0 to 1.0. |
| ClinGen status | Modulates panel context when a gene-disease validity label is available. The label remains curation metadata, not a variant classification. |
| Notes | Stores additional administrative or curation context for managed panel entries. |
Built-in and Organization Panels
Built-in panels are shared platform resources. Organization panels are visible within their organization. Organization administrators can create panels and maintain their gene entries; built-in panel changes require platform administration. Panels can be deactivated without immediately deleting their definition.
Available built-in panels can change as curation is updated. Review the selected panel name, active status, gene count, and gene list for the analysis being interpreted rather than relying on a remembered panel composition.
Custom Genes
Custom genes are supplied with an individual analysis or batch and do not require creation of a reusable organization panel. They can carry the same prioritization and display context used by panel genes. Use approved gene symbols and record why each gene was added to the clinical scope.
Interpretation Boundaries
Absence from the selected gene scope is not evidence that a gene or variant is clinically irrelevant.
Panel priority and ClinGen metadata influence prioritization; they do not replace variant-level ACMG evidence.
An all-age label means the panel entry remains relevant across age groups, not that every associated condition is equally actionable at every age.
Changing panel membership or metadata can change the returned result set and scores. Preserve the analysis provenance used for clinical review.
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