This application estimates the probability of carrying the C9orf72^RE mutation for unaffected relatives of a carrier. Estimates are based on the mathematical developments from de Vienne & de Vienne (in prep), applied to the age-specific penetrance data from Murphy et al. (2017). The risk estimates in this report are not definitive predictions. They reflect current knowlegde on age-related penetrance and may be updated as new data become available.

For publication use, please cite: de Vienne & de Vienne. 2025. Age-Based Risk Estimates for C9orf72^RE-related Diseases: Theoretical Developments and Added Value for Genetic Counselling. medRxiv

Input Parameters

Relationship of the consultand to the affected carrier:

Child (or sibling)

Grandchild (or nibling)

Assumed proportion of non-penetrant carriers:

Current age of the consultand:

Age of the parent (child - or sibling - of the affected individual):

Age gap: years

Time frame for disease risk estimation (in years):

Risk estimates visualization

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Risk estimates summary

Relationship to the affected individual:
Current age of the consultand:
Assumed proportion of non-penetrant carriers:

Parent's age:
Age gap (parent - consultand):

Estimated probability of carrying the mutation:
Estimated probability of developing the disease in the next :

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Genetic Counselling for ALS/FTD

Probability Estimates for C9orf72^RE-related ALS/FTD diseases

Input Parameters

Risk estimates visualization

Risk estimates summary