| Gene |
Locus Protein |
Location |
Inheritance |
Gene |
Phenotype; specific histology, if any |
| NPHS1 |
19q13.1 |
Nephrin |
Slit diaphragm |
AR |
Congenital nephrotic syndrome; characteristics changes |
| NPHS2 |
1q25-31 |
Podocin |
Slit diaphragm |
AR |
Congenital nephrotic syndrome or early onset SRNS; focal segmental glomerulosclerosis (FSGS) |
| PLCE1/NPHS3 |
10q23 |
Phospholipase
C epsilon 1 |
Intracellular |
AR |
Early onset SRNS; diffuse mesangial sclerosis (DMS); FSGS |
| WTI |
11p13 |
Wilms’ tumor 1 |
Intracellular |
AD |
Early onset SRNS, Denys-Drash or Frasier syndrome; DMS (Denys-Drash syndrome) FSGS (Frasier syndrome) |
| LAMB2 |
3p21 |
Laminin-β2 |
Glomerular basement membrane |
AR |
Pierson syndrome, early onset SRNS; DMS (syndromic); FSGS (isolated) |
| CD2AP |
6p12.3 |
CD2 associated protein |
Slit diaphragm |
AD |
Adult onset SRNS (heterozygous), early onset FSGS (homozygous), FSGS |
| ACTN4 |
19q13 |
α-actinin-4 |
Intracellular |
AD |
Adult onset SRNS (incomplete penetrance; slowprogression);FSGS |
| TRPC6 |
11q21-22 |
Transient receptor Potential ion channel 6 |
Cell surface |
AD |
Adult onset SRNS; FSGS |
| INF2 |
14q32 |
Inverted formin 2 |
Intracellular |
AD |
Adult onset SRNS; FSGS |
| LMX1B |
9q34.1 |
LIM- homeodomain transcription factor 1β |
Intracellular |
AD |
Nail-patella syndrome, SRNS |
| APOL1 |
22p |
Apolipoprotein L1 |
Intracellular |
Complex |
Adult onset SRNS (incomplete penetrance); FSGS |
