Genes with likely pathogenic variants in the steroid-resistant nephrotic syndrome group and haematuria/Alport syndrome group
| Gene with likely pathogenic variant | Steroid-resistant nephrotic syndrome (number of patients) | Haematuria/Alport syndrome (number of patients) | ||||
| Age group* | ≤18 years (n=209) | >18 years (n=46) | Total (n=255) | ≤18 years (n=20) | >18 years (n=15) | Total (n=35) |
| NPHS1 | 12 | 0 | 12 | 0 | 0 | 0 |
| WT1 | 9 | 2 | 11 | 0 | 0 | 0 |
| NPHS2 | 7 | 0 | 7 | 0 | 0 | 0 |
| LMX1B | 4 | 0 | 4 | 0 | 0 | 0 |
| INF2 | 0 | 3 | 3 | 0 | 0 | 0 |
| LAMB2 | 3 | 0 | 3 | 0 | 0 | 0 |
| MYH9 | 2 | 0 | 2 | 0 | 0 | 0 |
| PLCE1 | 2 | 0 | 2 | 0 | 0 | 0 |
| ACTN4 | 1 | 0 | 1 | 0 | 0 | 0 |
| SCARB2 | 0 | 1 | 1 | 0 | 0 | 0 |
| SMARCAL1 | 1 | 0 | 1 | 0 | 0 | 0 |
| TRPC6 | 0 | 1 | 1 | 0 | 0 | 0 |
| COL4A3 | 0 | 1 | 1 | 3 | 2 | 5 |
| COL4A4 | 1 | 1† | 2 | 0 | 2 | 2 |
| COL4A5 | 2 | 1 | 3 | 5 | 5 | 10 |
| Total | 44 | 10 | 54 | 8 | 9 | 17 |
*For patients where no data were available for age at disease onset, the age at genetic testing was used. None of the 12 patients with steroid-sensitive nephrotic syndrome had likely pathogenic variants and so are not shown in this table.
†This patient was referred with hypertensive nephrosclerosis and a family history of renal disease.