Table 2.
Category | No. of low- expression genes in fibroblasts |
Up-regulated in iN |
Activated and actionable in iN |
||
---|---|---|---|---|---|
No. | % | No. | % | ||
Neurological OMIM | 563 | 305 | 54.2 | 133 | 23.6 |
Intellectual disability panel | 231 | 156 | 67.5 | 75 | 32.5 |
Brain malformation panel | 24 | 22 | 91.7 | 9 | 37.5 |
Autism spectrum disorder panel | 69 | 53 | 76.8 | 22 | 31.9 |
Epilepsy panel | 246 | 156 | 63.4 | 72 | 29.3 |
Ataxia panel | 292 | 176 | 60.3 | 70 | 24.0 |
Neuropathy panel | 21 | 13 | 61.9 | 9 | 42.9 |
Neuromuscular disorders panel | 52 | 28 | 53.8 | 8 | 15.4 |
Leukodystrophy panel | 90 | 51 | 56.7 | 28 | 31.1 |