Imprinting & UPD pedigree software
Imprinting disorders defeat the usual recurrence-risk heuristics because the molecular mechanism determines the number, not the pedigree shape alone. Evagene models four distinct mechanisms and applies the parent-of-origin rule for imprinting-centre defects.
Four mechanisms, four different recurrence-risk numbers
- Deletion — typically sporadic; low recurrence unless a parent carries a structural variant.
- Uniparental disomy (UPD) — typically sporadic; recurrence dominated by the rare cases of parental meiotic instability.
- Imprinting-centre defect — can carry substantial recurrence risk depending on the configuration.
- Point mutation in the imprinted gene — follows classical Mendelian recurrence for the underlying pattern.
The parent-of-origin rule
For imprinting-centre defects, the transmitting parent's sex determines which syndromic phenotype appears in offspring. A paternally-inherited defect at 15q11-13 presents as Prader-Willi syndrome; a maternally-inherited defect at the same locus presents as Angelman syndrome. Evagene's offspring-risk output depends on both the confirmed molecular mechanism and the transmitting parent's sex.
Canonical disorders
Who this is for
Reproductive-medicine specialists, clinical geneticists, and genetic counsellors counselling couples after a previous pregnancy affected by an imprinting disorder. The couple's next-pregnancy recurrence-risk number depends on the confirmed molecular mechanism in the proband — which is exactly what Evagene's engine takes as input.