Table 3 Reasons for manual exclusion of genes and number of genes excluded for that reason
Reason | Number of genes |
|---|---|
No genotype phenotype correlation/not predictable/highly variable | 10 |
Age at onset (not predictable/onset predominantly after two years of age) | 17 |
No evidence that early diagnosis will really change evolution | 8 |
Intermediate/variable penetrance | 4 |
Treatability (majority of phenotypes not treatable/effectiveness of treatment questionable) | 8 |
Treatment availability not in early childhood | 2 |