Nephrotic Syndrome Precision Panel
Nephrotic Syndrome (NS) is defined as the presence of nephrotic-range proteinuria with a low serum albumin level, edema and hypercholesterolemia, indicating damage to the glomerular filtration barrier.

Nephrotic Syndrome (NS) is defined as the presence of nephrotic-range proteinuria with a low serum albumin level, edema and hypercholesterolemia, indicating damage to the glomerular filtration barrier. Nephrotic-range proteinuria is known as the loss of 3.5 grams or more per day of protein in the urine. Nephrotic syndrome has a plethora of causes in which we can find primary kidney diseases such as minimal change disease, focal segmental glomerulosclerosis and membranous glomerulonephritis, among others. It can also be the result of systemic diseases that involve other organs apart from the kidney such as diabetes, lupus erythematosus and amyloidosis. Genetic causes of nephrotic syndrome consist of defects in glomerular filtration involving a variety of gene mutations, inherited in its majority in an autosomal recessive pattern.
The Igenomix Nephrotic Syndrome Precision Panel can be used to make a directed and accurate differential diagnosis of proteinuria ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
The clinical utility of this panel is:
GENE | OMIM DISEASES | INHERITANCE* | % GENE COVERAGE (20X) | HGMD** |
ADA | Severe Combined | AR | 100 | 97 of 98 |
ANLN | Focal Segmental | AD | 99.45 | 6 of 6 |
APOA1 | Familial Visceral | AD | 99.89 | 68 of 70 |
ARHGDIA | Nephrotic | AR | 99.41 | 3 of 3 |
ARL6 | Bardet-Biedl | AD,AR,X,XR,G | 100 | 17 of 21 |
AVIL | Nephrotic | AR | 100 | 4 of 4 |
B2M | Familial Visceral | AD,AR | 100 | 4 of 4 |
BBIP1 | Bardet-Biedl | AR | 99.88 | 1 of 1 |
BBS1 | Bardet-Biedl | AR | 100 | 102 of 105 |
BBS10 | Bardet-Biedl | AR | 100 | 114 of 114 |
BBS12 | Bardet-Biedl | AR | 99.78 | 61 of 61 |
BBS2 | Bardet-Biedl | AR | 100 | 99 of 100 |
BBS4 | Bardet-Biedl | AR | 100 | 45 of 48 |
BBS5 | Bardet-Biedl | AR | 99.8 | 30 of 31 |
BBS7 | Bardet-Biedl | AR | 100 | 48 of 48 |
BBS9 | Bardet-Biedl | AR | 99.56 | 50 of 51 |
C1QBP | Combined | AR | 99.89 | 6 of 6 |
C3 | Autosomal Recessive | AD,AR | 100 | 123 of 124 |
C8ORF37 | Bardet-Biedl | AD,AR,X,XR,G | na | na |
CASP10 | Autoimmune | AD | 99.86 | 6 of 6 |
CCND1 | Multiple Myeloma, | AD | 99.95 | 1 of 1 |
CEP290 | Bardet-Biedl Syndrome, | AR | 96.47 | 293 of 327 |
CHD7 | Charge Syndrome, | AD | 96.25 | 823 of 896 |
CHST14 | Musculocontractural | AR | 97.7 | 21 of 22 |
COL4A3 | Autosomal Dominant | AD,AR | 100 | 277 of 280 |
COL4A4 | Autosomal | AD,AR | 99.95 | 247 of 251 |
COL4A5 | X-linked Alport | X,XD,G | 99.88 | NA of NA |
COQ2 | Coenzyme Q10 | AD,AR | 99.61 | 37 of 38 |
COQ6 | Coenzyme Q10 | AR | 100 | 19 of 19 |
COQ8B | Nephrotic | AR | 100 | NA of NA |
CRB2 | Ventriculomegaly | AR | 99.5 | 26 of 29 |
CYBC1 | Autosomal | AR | na | na |
DCLRE1C | Omenn Syndrome, | AR | 99.99 | 72 of 73 |
DGKE | Nephrotic Syndrome | AR | 99.67 | 41 of 42 |
DHX37 | 46,XY Sex Reversal, | AD,AR | 99.87 | 13 of 13 |
DMRT3 | 46,XY Partial Gonadal | – | 88.67 | 1 of 1 |
EMP2 | Familial Idiopathic | AR | 99.98 | 3 of 3 |
FGA | Afibrinogenemia, | AD,AR | 100 | 153 of 154 |
FN1 | Glomerulopathy | AD | 100 | 34 of 34 |
FOXP3 | Immunodysregulation, | X,XR,G | 99.86 | NA of NA |
GATA3 | Hypoparathyroidism, | AD | 100 | 81 of 81 |
GATA4 | Testicular Anomalies | AD | 94.69 | 108 of 130 |
GLA | Fabry Disease | X,XR,G | 98 | NA of NA |
GSN | Amyloidosis | AD | 96.69 | 16 of 17 |
IFIH1 | Aicardi-Goutieres | AD | 99.62 | 26 of 27 |
IFT172 | Retinitis Pigmentosa, | AR | 100 | 37 of 37 |
IFT27 | Bardet-Biedl | AR | 100 | 5 of 5 |
IL2RG | X-linked Severe | X,XR,G | 99.86 | NA of NA |
IL7R | Autosomal Recessive | AR | 100 | 54 of 55 |
IRAK1 | Pediatric Systemic | – | 96.2 | NA of NA |
ITGA3 | Interstitial Lung Disease, | AR | 99.2 | 11 of 11 |
JAK1 | Autoinflammation, | AD | 99.92 | 7 of 8 |
KANK2 | Nephrotic Syndrome, | AR | 99.92 | 3 of 3 |
LAGE3 | X-linked Galloway | X,XR,G | 91.36 | NA of NA |
LAMB2 | Nephrotic Syndrome | AR | 100 | 129 of 129 |
LIG4 | LIG4 Syndrome, | AR | 99.48 | 46 of 46 |
LMNB2 | Barraquer-Simons | AD,AR | 95.03 | 5 of 5 |
LMX1B | Nail-Patella Syndrome, | AD | 100 | 191 of 191 |
LYZ | Familial Visceral | AD | 100 | 10 of 10 |
LZTFL1 | Bardet-Biedl | AR | 99.83 | 4 of 4 |
MAGI2 | Nephrotic | AR | 93.82 | 7 of 9 |
MAP3K1 | 46,XY Sex Reversal, | AD | 96.5 | 31 of 32 |
MARS1 | Charcot-Marie- | AD,AR | 99.98 | 19 of 19 |
MEFV | Familial Mediterranean | AD,AR | 96.77 | 174 of 188 |
MKKS | Bardet-Biedl Syndrome, | AR | 89.96 | 71 of 71 |
MKS1 | Bardet-Biedl Syndrome, | AR | 99.98 | 49 of 49 |
MME | Charcot-Marie-Tooth | AD,AR | 100 | 33 of 33 |
MYO1E | Focal Segmental | AR | 100 | 30 of 30 |
NLRP3 | Cinca Syndrome, | AD | 100 | 152 of 152 |
NPHP1 | Nephronophthisis, | AR | 100 | 58 of 59 |
NPHS1 | Congenital Nephrotic | AR | 100 | 351 of 352 |
NPHS2 | Autosomal Recessive | AR | 99.7 | 209 of 212 |
NR0B1 | Congenital Adrenal | X,XR,G | 99.87 | NA of NA |
NR5A1 | 46,XX Sex Reversal, | AD | 99.97 | 222 of 224 |
NUP107 | Galloway-Mowat | AR | 99.91 | 15 of 15 |
NUP133 | Galloway-Mowat | AR | 99.94 | 6 of 6 |
NUP160 | Nephrotic | AR | 99.96 | 3 of 3 |
NUP205 | Nephrotic | AR | 98.95 | 6 of 6 |
NUP85 | Nephrotic | AR | 97.59 | 5 of 5 |
NUP93 | Nephrotic | AR | 99.91 | 16 of 17 |
OSGEP | Galloway-Mowat | AR | 99.17 | 19 of 19 |
PAX2 | Focal Segmental | AD | 99.99 | 100 of 100 |
PDSS2 | Primary Coenzyme | AR | 99.99 | 6 of 6 |
PLCE1 | Nephrotic Syndrome | AR | 99.93 | 73 of 73 |
PMM2 | Congenital Disorder | AR | 100 | 127 of 129 |
PRKCD | Common Variable | AR | 100 | 9 of 9 |
PTPRO | Nephrotic | AR | 99.99 | 10 of 10 |
PUS3 | Autosomal Recessive | AR | 99.01 | 8 of 9 |
RAG1 | Combined Cellular And | AR | 100 | 193 of 193 |
RAG2 | Combined Cellular And | AR | 100 | 90 of 91 |
RMRP | Anauxetic Dysplasia, | AR | na | na |
SAA1 | Amyloidosis | – | 98.45 | 0 of 1 |
SCARB2 | Action Myoclonus-Renal | AR | 99.95 | 29 of 29 |
SDCCAG8 | Bardet-Biedl Syndrome, | AR | 96.29 | 18 of 19 |
SERPINA1 | Alpha-1-Antitrypsin | AR | 99.77 | 107 of 111 |
SGPL1 | Nephrotic | AR | 98.96 | 18 of 18 |
SLC17A5 | Infantile Sialic Acid | AR | 99.91 | 49 of 49 |
SLC35A2 | X-linked Congenital | X,XD,G | 99.97 | NA of NA |
SMARCAL1 | Schimke Immuno- | AR | 99.94 | 93 of 93 |
SNAP29 | Cerebral Dysgenesis, | AR | 100 | 13 of 13 |
SOX9 | Campomelic Dysplasia, | AD | 97.28 | 87 of 95 |
SPP1 | Pediatric Systemic | – | 99.77 | 2 of 2 |
SRY | 46,XX Sex Reversal, | X,XD,Y,G | 45 | NA of NA |
STAT4 | Behçet Disease, |
| 99.98 | 4 of 4 |
TBC1D8B | Nephrotic | X,G | 98.21 | NA of NA |
TBX18 | Congenital Anomalies | AD | 99.8 | 9 of 12 |
TP53RK | Galloway-Mowat | AR | 97.68 | 5 of 5 |
TPRKB | Galloway-Mowat | AR | 85.66 | 2 of 2 |
TRIM32 | Bardet-Biedl | AR | 100 | 17 of 17 |
TRPC6 | Focal Segmental | AD | 99.92 | 52 of 55 |
TTC8 | Bardet-Biedl Syndrome, | AR | 99.33 | 28 of 28 |
VAMP7 | 46,XY Partial Gonadal |
| 99.98 | NA of NA |
VPS33A | Mucopolysaccharidosis | AR | 97.86 | 1 of 1 |
WDPCP | Bardet-Biedl Syndrome, | AR | 99.3 | 8 of 8 |
WDR4 | Galloway-Mowat Syndrome, | AR | 99.91 | 7 of 7 |
WDR73 | Galloway-Mowat | AR | 95.71 | 14 of 14 |
WT1 | Denys-Drash Syndrome, | AD | 98.92 | 178 of 185 |
WWOX | 46,XY Partial Gonadal | AR | 99.94 | 44 of 44 |
ZAP70 | Multisystem | AR | 99.99 | 30 of 30 |
ZFPM2 | 46,XY Sex | AD | 99.4 | 44 of 46 |
ZNF592 | Camos Syndrome | – | 99.93 | 1 of 1 |
*Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial.
**Number of clinically relevant mutations according to HGMD
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