Table 2.
Families Harboring Most Likely Pathogenic Mutations in Known adRP Genes
| Family ID | Presumed Inheritance | Exomes (No. Affected) | Gene (MIM Number) | Rank (Total SNVs) | Actual Inheritance |
|---|---|---|---|---|---|
| ADRP04 | dominant | 2 (2) | SNRNP200 (601664) | 1 (25,418) | dominant |
| ADRP06 | dominant | 3 (3) | CHM (300390) | 13 (28,395) | X-linked |
| ADRP09 | dominant | 4 (3) | CHM (300390) | 4 (33,785) | X-linked |
| ADRP11 | dominant | 2 (2) | PROM1 (604365) | 2 (23,729) | dominant |
| ADRP12 | X-linked | 3 (3) | CNGB1 (600724) | 439 (26,666) | recessive |
| ADRP18 | dominant | 3 (2) | NRL (162080) | 2 (25,604) | dominant |
| ADRP21 | dominant | 4 (3) | SNRNP200 (601664) | 1 (33,072) | dominant |
| ADRP22 | dominant | 4 (3) | RPE65 (180069) | 12 (27,573) | dominant |
The number of samples (and number affected) is shown. Rank by overall score and presumed versus actual mode of inheritance are shown.