Table 2 Showing the IFC assays results in individuals with VUS in known disease genes and positive control patients. The population means in individuals were compared to healthy controls and shown here as percentages. In bold, the percentages that fell outside of the healthy control reference range are shown
Patient ID | Gene | Golgi | ER stress | Autophagy | Lysosomes | Membrane potential | Mitochondrial mass | NFκβ- translocation |
|---|---|---|---|---|---|---|---|---|
33 | CLN3 | 94% | 136% | 103% | 175% | 74% | 87% | 166% |
34 | CLN3 | 101% | 119% | 120% | 217% | 77% | 70% | 103% |
31 | CLN3VUS | 106% | 147% | 111% | 213% | 84% | 88% | 234% |
35 | CLN3VUS | 103% | 108% | 87% | 167% | 127% | 122% | 106% |
07 | EPG5 | 90% | 125% | 201% | 27% | 92% | 101% | 159% |
08 | EPG5 | 102% | 121% | 232% | 54% | 95% | 90% | 113% |
250 | EPG5VUS | 97% | 135% | 152% | 83% | 85% | 89% | 98% |
252 | DLP1 | 99% | 111% | 99% | 78% | 79% | 76% | 140% |
249 | DLP1VUS | 106% | 114% | 106% | 97% | 60% | 62% | 139% |
253 | DLP1VUS | 89% | 132% | 94% | 108% | 90% | 72% | 146% |
251 | TAZ | 116% | 102% | 116% | 79% | 87% | 62% | 58% |
240 | TAZVUS | 122% | 160% | 124% | 112% | 82% | 67% | 52% |
261 | ACAD9 | 51% | 182% | 77% | 99% | 103% | 86% | 65% |
111 | ACAD9VUS | 39% | 158% | 46% | 101% | 116% | 84% | 57% |