Mendelian Calculator


  • The Mendelian Calculator uses the family history to calculate the probability of a case already known to have a condition inheriting that condition according to a particular inheritance pattern as opposed to having sporadic disease. It also calculates sensitivity, specificity and likelihood ratios for observing a particular inheritance pattern given a certain family composition.

  • In a typical clinical setting, we may often be faced with a patient in whom we suspect an underlying inherited disease. Does a lack of a family history make this diagnosis much less likely? How much less likely? How much does the family size and make-up, and the penetrance and inheritance pattern of the disease affect this likelihood?

  • Conversely, if the patient actually has a family history that fits the criteria for a particular inheritance pattern, how specific is this for that pattern as opposed to another inheritance pattern? How much does it make sporadic disease less likely?

  • Input the family composition, affected and unaffected members, and the suspected inheritance pattern, prevalence and penetrance, and the app provides probabilities, predictive values, sensitivities, specificities and likelihood ratios.

  • Version History


    Version 0.3:
  • Changed the familial risk calculations so that relative risk of familial vs sporadic is calculated automatically. Manual entries may still be made.

  • Version 0.2:
  • Added viable homozygote and males worse inheritance conditions
  • Added minimum of one rather than two relatives options to satisfy inheritance criteria
  • Added preset data for some standard phenotypes

  • Version 0.1:
  • Checked sensitivity and specificity data against manual calculations

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