Mitochondrial inheritance pedigree software
Mitochondrial DNA disorders transmit exclusively through the maternal line and do not follow Mendelian logic. Evagene models mtDNA inheritance directly on the pedigree, with strict maternal transmission, configurable sex-differential penetrance, and heteroplasmy scaling calibrated per disease.
Three features that distinguish mtDNA counselling from Mendelian logic
- Strict maternal transmission. Fathers do not transmit mtDNA variants. Unaffected daughters of a carrier mother still transmit.
- Sex-differential penetrance. Leber's hereditary optic neuropathy shows marked male preponderance; MELAS affects both sexes more symmetrically. Evagene exposes
male_penetranceandfemale_penetranceper disease. - Heteroplasmy scaling. Phenotype severity tracks the mutant-load fraction in the transmitting mother's tissues.
mitochondrial_heteroplasmy_levelis configurable at disease level with a runtime override.
Canonical disorders
LHON
Leber's hereditary optic neuropathy. m.11778G>A most common. Marked male preponderance.
MELAS
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes.
MERRF
Myoclonic epilepsy with ragged-red fibres.
NARP
Neuropathy, ataxia, retinitis pigmentosa.
Leigh syndrome (mtDNA subset)
Subacute necrotising encephalomyelopathy; nuclear forms distinct.
Kearns-Sayre
Progressive external ophthalmoplegia, retinopathy, cardiac conduction defects; typically large-scale mtDNA deletions.
Pearson syndrome
Sideroblastic anaemia and exocrine pancreatic dysfunction; infantile onset.
Who this is for
Clinical geneticists, genetic counsellors, and reproductive-medicine specialists counselling women in carrier families. The typical presentation — a woman whose brother had a mitochondrial encephalopathy, planning a pregnancy — is exactly the kind of case where a maternal-line-only offspring-risk output, rather than a Mendelian default, changes the counselling conversation.