Table 2.
Positive genes
| Gene | Associated conditions | Positive results, n | Inheritance pattern | Kidney disease category* |
|---|---|---|---|---|
| ABCC8 | Familial hyperinsulinemia hypoglycemia, diabetes mellitus | 1 | AD/AR | T, G, D, H |
| ADCY10 | Absorptive hypercalciuria | 1 | AD | T |
| ALPL | Hypophosphatasia | 1 | AD/AR | T |
| APOL1 | Susceptibility to end-stage renal disease; focal segmental glomerulosclerosis 4 | 57 | Complex | G |
| ATP6V0A4 | Renal tubular acidosis, distal | 1 | AR | T |
| ATP6V1B1 | Renal tubular acidosis with deafness | 1 | AR | T |
| AVPR2 | Diabetes insipidus, nephrogenic | 1 | XL | T |
| BBS1 | Bardet-Biedl syndrome | 2 | AR | CS, CTI |
| CASR | Hypocalcemia; familial hypocalciuric hypercalcemia with transient neonatal hyperparathyroidism | 1 | AD/AR | T |
| CD2AP | Focal segmental glomerulosclerosis | 2 | AD/AR | G |
| CFI | Hemolytic uremic syndrome, atypical; complement factor I deficiency | 3 | AD/AR | CR |
| COL11A1 | Stickler syndrome | 2 | AD | CS? |
| COL4A1 | HANAC | 2 | AD | CTI |
| COL4A3 | Alport syndrome, COL4A3-related | 13 | AD/AR | G |
| COL4A4 | Alport syndrome, COL4A4-related | 14 | AD/AR | G |
| COL4A5 | Alport syndrome, X-linked | 24 | XL | G |
| CUBN | Megaloblastic anemia 1, Finnish type | 1 | AR | G |
| CYP24A1 | Familial hypercalcemia | 2 | AR | T |
| GANAB | Polycystic kidney and/or polycystic liver disease 3 | 1 | AD | CTI |
| HBB | Beta-hemoglobinopathies (HbSC disease) | 1 | AD/AR | G, T |
| HNF1A | Diabetes mellitus; maturity-onset diabetes of the young, type 3 | 1 | AD/AR | CTI |
| HNF1B | Renal cysts and diabetes syndrome | 1 | AD | CTI, CS, D |
| HNF4A | Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, type 1 | 2 | AD | G, D |
| INF2 | Focal segmental glomerulosclerosis 5; Charcot-Marie-tooth disease E | 3 | AD | G |
| KCNJ11 | Congenital hyperinsulinism; permanent neonatal diabetes mellitus | 2 | AD/AR | G, D |
| MC4R | Obesity risk | 1 | AD/AR | D, H |
| MEFV | Familial Mediterranean fever | 1 | AR | G |
| NPHS2 | Nephrotic syndrome, type 2 | 2 | AR | G |
| NR3C2 | Pseudohypoaldosteronism type I, autosomal dominant hypertension, early-onset | 1 | AD | T, H |
| OFD1 | Joubert syndrome, type 10; orofaciodigital syndrome I; Golabi-Behmel syndrome, type 2 | 1 | XL | CTI |
| PAX2 | Isolated renal hypoplasia; papillorenal syndrome; focal segmental glomerulosclerosis 7 | 1 | AD | CS, G |
| PBX1 | CAKUTHED | 1 | AD | CS |
| PKD1 | Polycystic kidney disease 1 | 75 | AD | CTI |
| PKD1/TSC2 gene deletion | Polycystic kidney disease 1/tuberous sclerosis contiguous gene deletion | 1 | AD | CTI |
| PKD2 | Polycystic kidney disease 2 | 22 | AD | CTI |
| PKHD1 | Autosomal recessive polycystic kidney disease | 2 | AR | CTI |
| PRKCSH | Polycystic liver disease 1 | 1 | AD | CTI |
| PTPN11 | Noonan syndrome 1 | 1 | AD | CS |
| SLC12A3 | Gitelman syndrome | 3 | AR | T |
| SLC34A1 | Fanconi renotubular syndrome 2; hypercalcemia, infantile, 2; nephrolithiasis/ osteoporosis, hypophosphatemic, 1 | 1 | AD/AR | T |
| SLC3A1 | Cystinuria | 4 | AD/AR | T |
| SLC4A1 | Renal tubular acidosis, distal | 1 | AD/AR | T |
| SLC7A9 | Cystinuria | 1 | AD/AR | T |
| SMAD9 | Pulmonary hypertension, primary 2 | 1 | AD | T, H |
| TSC2 | Tuberous sclerosis 2 | 1 | AD | CTI |
| TTR | Amyloidosis, hereditary, transthyretin-related | 9 | AD | G |
| UMOD | Medullary cystic kidney disease 2; hyperuricemic nephropathy; glomerulocystic kidney disease | 2 | AD | CTI |
| VHL | Von Hippel-Lindau syndrome | 1 | AD | CTI |
| WNK4 | Pseudohypoaldosteronism, type 2B | 2 | AD | T |
| WT1 | Denys-Drash syndrome; Frasier syndrome; nephrotic syndrome, type 4 | 1 | AD | CS, G |
HANAC, hereditary angiopathy with nephropathy, aneurysms, and muscle cramps; CAKUTHED, congenital anomalies of the kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay.
*
Kidney disease categories: CTI, cystic and tubulointerstitial disorders; G, glomerular disorders; CR, complement-related kidney disorders; CS, congenital anomalies of the kidney and urinary tract (CAKUT) and structural disorders; T, tubulopathy and tubular disorders (tubular ion transport, nephrolithiasis, cystinuria, nephrogenic diabetes); D, diabetes-related; H, hypertension-related.