Table 1

Genetic causes of glomerular disease, arranged by site affected in glomerulus (see figure 1)

Site affected in glomerulus	Disease	Gene	Gene product	Inheritance	Phenotype OMIM number
Podocyte slit diaphragm	Congenital nephrotic syndrome	NPHS1	Nephrin	Autosomal recessive	256300
Podocyte slit diaphragm	FSGS	NPHS2	Podocin	Autosomal recessive	600995
Podocyte actin cytoskeleton	FSGS	ACTN4	α-actinin-4	Autosomal dominant	603278
Podocyte calcium flux	FSGS	TRPC6	Cation channel C6	Autosomal dominant	603965
Podocyte nuclear proteins	Denys-Drash syndrome, WAGR syndrome, Frasier syndrome	WT1	Wilm's tumour 1	Autosomal dominant	194080
Type IV collagen, basement membrane	Alport syndrome	COL4A5	α5 chain, type IV collagen	X-Linked (most commonly*)	301050
Glomerular basement membrane	Pierson's syndrome	LAMB2	Laminin-β2	Autosomal recessive	609049
Transcription factor regulating podocyte genes	Nail Patella syndrome	LMX1B	LMX1B transcription factor	Autosomal dominant	161200

See diagram in figure 1 for site affected in glomerulus.
This is not a complete list but a list of the more common genetic causes of glomerular disease, see references for a more comprehensive list.8 ,10 ,11 ,29
*Alport syndrome may also less commonly be inherited in an autosomal recessive pattern with mutations in COL4A3 and COL4A4.
FSGS, focal segmental glomerulosclerosis; OMIM, Online Mendelian Inheritance in Man; WAGR, wilms tumour aniridia genitourinary anomalies and mental retardation.