X-linked dominant pedigree software
Classical XLD assumes similar severity in heterozygous females and hemizygous males. In practice, the clinically encountered X-linked dominant disorders split into five observable live-born patterns — and the correct recurrence-risk number turns on which pattern applies. Evagene models all five.
The five sex-differential severity sub-modes
Similar severity in both sexes. The textbook XLD description.
Males substantially more severely affected than heterozygous females; both sexes viable.
Affected males are not live-born. Carrier-mother offspring split 1 affected daughter : 1 unaffected daughter : 1 unaffected son. Canonical: incontinentia pigmenti (IKBKG), focal dermal hypoplasia (PORCN), OFD1.
Affected males not seen in live births or recorded offspring. Canonical: Rett syndrome (MECP2), CDKL5-related disorder.
Males phenotypically spared. Canonical: craniofrontonasal syndrome (CFND, EFNB1), Epilepsy and Mental Retardation Limited to Females (EFMR, PCDH19).
Offspring risk — sex-split and sub-mode-aware
For each sub-mode, Evagene's risk engine produces sex-specific offspring probabilities calibrated to what the clinician should expect to count in the live-born generation. The sub-mode is stored on the disease record and pre-populated for canonical disorders through catalogue lookup.
Who this is for
Clinical geneticists, genetic counsellors, and reproductive-medicine specialists. The classical consultation — a woman whose sister has had multiple daughters affected by a Rett-like picture and no affected sons — resolves differently under the male-lethal-no-reproduction sub-mode than under textbook XLD.