Predict myotonic dystrophy type 1 (DM1) phenotypic class (congenital, childhood, adult, late-onset) and anticipation risk from parental CTG repeat size, anticipation in maternal vs paternal transmission, and degree of somatic mosaicism.
Predict myotonic dystrophy type 1 (DM1) phenotypic class (congenital, childhood, adult, late-onset) and anticipation risk from parental CTG repeat size, anticipation in maternal vs paternal transmission, and degree of somatic mosaicism
Each component has a specific meaning:
Note: Interpret the dm1 ctg phenotype result against the thresholds and context described above.
Enter the parental CTG repeat size, anticipation in maternal vs paternal transmission, degree of somatic mosaicism for the scenario you are assessing. Predict myotonic dystrophy type 1 (DM1) phenotypic class (congenital, childhood, adult, late-onset) and anticipation risk from parental CTG repeat size, anticipation in maternal vs paternal transmission, and degree of somatic mosaicism. Use the dm1 ctg phenotype result to inform your calculation.