Table 2.
Causative genes identified in patients with any medullary phenotype in the 100KGP (n = 161)
| Identified gene in solved family | MCK (ICD10) | MN (HPO) | Multiple small medullary cysts (HPO) | Total per phenotype | Phenotype group solved gene | Total solved per phenotype group |
|---|---|---|---|---|---|---|
| ATP6V0A4 | 1 | 1 | dRTA | 2 | ||
| SLC4A1 | 1 | 1 | dRTA | |||
| PKD1 | 1 | 14 | 15 | Ciliopathy – ADPKD | 23 | |
| PKD2 | 6 | 6 | Ciliopathy – ADPKD | |||
| DNAJB11 | 2 | 2 | Ciliopathy – ADPKD | |||
| CEP290 | 2 | 2 | Ciliopathy – AR | 9 | ||
| EYS | 1 | 1 | Ciliopathy – AR | |||
| PKHD1 | 2 | 2 | Ciliopathy – AR | |||
| NPHP1 | 1 | 1 | 2* | Ciliopathy – AR | ||
| NPHP4 | 1 | 1 | Ciliopathy – AR | |||
| SDCCAG8 | 1 | 1 | Ciliopathy – AR | |||
| TMEM67 | 1 | 1 | Ciliopathy – AR | |||
| EYA1 | 1 | 1 | CAKUT | 2 | ||
| SALL1 | 1 | 1 | CAKUT | |||
| SLC7A9 | 1 | 1 | Cystinuria | 1 | ||
| COL4A4 | 1 | 1 | Alport | 1 | ||
| Maternal UPD15 (Prader-Willi) | 1 | 1 | Other | 1 | ||
| Total result | 11 | 3 | 25 | 40* | Total number of solved families | 39 |
*Patients with multiple phenotypes; total number of patients is 39.