Genomics Precision Diagnostic > Nephrology > Nephrotic Syndrome Precision Panel

Nephrotic Syndrome Precision Panel – 121 genes

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.

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

Overview

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.

Indication

The Igenomix Nephrotic Syndrome Precision Panel is indicated for those patients with a clinical suspicion or diagnosis of Nephrotic Syndrome presenting with:
- Massive proteinuria (>3.5g/24 hours)
- Edema
- Thrombosis and embolic events
- Hypertension
- Increased susceptibility to infection
- Low albumin level
- Hyperlipidemia

Clinical Utility

The clinical utility of this panel is:

The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
Early initiation of treatment with a multidisciplinary team in the form of medical care with steroids, lipid lowering drugs, preventive anticoagulation or management of underlying systemic disease.
Risk assessment of asymptomatic family members according to the mode of inheritance.
Translation of genomic-informed medicine allowing for the improvement of the understanding of molecular anatomy of nephrotic syndrome and thus, the ability to care for patients.

Genes & Diseases

See all genes and diseases

GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*ADA*	Severe Combined Immunodeficiency, Omenn Syndrome	AR	100	97 of 98
*ANLN*	Focal Segmental Glomerulosclerosis	AD	99.45	6 of 6
*APOA1*	Familial Visceral Amyloidosis, Apolipoprotein A-1 Deficiency	AD	99.89	68 of 70
*ARHGDIA*	Nephrotic Syndrome	AR	99.41	3 of 3
*ARL6*	Bardet-Biedl Syndrome, Retinitis Pigmentosa	AD,AR,X,XR,G	100	17 of 21
*AVIL*	Nephrotic Syndrome	AR	100	4 of 4
*B2M*	Familial Visceral Amyloidosis, Hypercatabolic Hypoproteinemia, Variant Abeta2m Amyloidosis	AD,AR	100	4 of 4
*BBIP1*	Bardet-Biedl Syndrome	AR	99.88	1 of 1
*BBS1*	Bardet-Biedl Syndrome	AR	100	102 of 105
*BBS10*	Bardet-Biedl Syndrome	AR	100	114 of 114
*BBS12*	Bardet-Biedl Syndrome	AR	99.78	61 of 61
*BBS2*	Bardet-Biedl Syndrome, Retinitis Pigmentosa	AR	100	99 of 100
*BBS4*	Bardet-Biedl Syndrome	AR	100	45 of 48
*BBS5*	Bardet-Biedl Syndrome	AR	99.8	30 of 31
*BBS7*	Bardet-Biedl Syndrome	AR	100	48 of 48
*BBS9*	Bardet-Biedl Syndrome	AR	99.56	50 of 51
*C1QBP*	Combined Oxidative Phosphorylation Deficiency	AR	99.89	6 of 6
C3	Autosomal Recessive Complement Component 3 Deficiency, Atypical Hemolytic Uremic Syndrome	AD,AR	100	123 of 124
*C8ORF37*	Bardet-Biedl Syndrome, Cone-Rod Dystrophy, Retinitis Pigmentosa	AD,AR,X,XR,G	na	na
*CASP10*	Autoimmune Lymphoproliferative Syndrome, Type IIa	AD	99.86	6 of 6
*CCND1*	Multiple Myeloma, Von Hippel-Lindau Syndrome	AD	99.95	1 of 1
*CEP290*	Bardet-Biedl Syndrome, Joubert Syndrome, Leber Congenital Amaurosis, Meckel Syndrome, Senior- Loken Syndrome	AR	96.47	293 of 327
*CHD7*	Charge Syndrome, Omenn Syndrome	AD	96.25	823 of 896
*CHST14*	Musculocontractural Ehlers-Danlos Syndrome	AR	97.7	21 of 22
*COL4A3*	Autosomal Dominant Alport Syndrome, Autosomal Recessive Alport Syndrome, Benign Familial Hematuria	AD,AR	100	277 of 280
*COL4A4*	Autosomal Recessive Alport Syndrome, Benign Familial Hematuria	AD,AR	99.95	247 of 251
*COL4A5*	X-linked Alport Syndrome	X,XD,G	99.88	NA of NA
*COQ2*	Coenzyme Q10 Deficiency, Multiple System Atrophy, Leigh Syndrome With Nephrotic Syndrome	AD,AR	99.61	37 of 38
*COQ6*	Coenzyme Q10 Deficiency	AR	100	19 of 19
*COQ8B*	Nephrotic Syndrome	AR	100	NA of NA
*CRB2*	Ventriculomegaly With Cystic Kidney Disease, Focal Segmental Glomerulosclerosis	AR	99.5	26 of 29
*CYBC1*	Autosomal Recessive Chronic Granulomatous Disease	AR	na	na
*DCLRE1C*	Omenn Syndrome, Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation, Omenn Syndrome	AR	99.99	72 of 73
*DGKE*	Nephrotic Syndrome	AR	99.67	41 of 42
*DHX37*	46,XY Sex Reversal, 46,XY Partial Gonadal Dysgenesis, Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies, Testicular Regression Syndrome	AD,AR	99.87	13 of 13
*DMRT3*	46,XY Partial Gonadal Dysgenesis	–	88.67	1 of 1
*EMP2*	Familial Idiopathic Steroid-Resistant Nephrotic Syndrome	AR	99.98	3 of 3
*FGA*	Afibrinogenemia, Congenital Hypofibrinogenemia, Familial Visceral Amyloidosis, Familial Dysfibrinogenemia	AD,AR	100	153 of 154
*FN1*	Glomerulopathy With Fibronectin Deposits, Fibronectin Glomerulopathy	AD	100	34 of 34
*FOXP3*	Immunodysregulation, X-linked Polyendocrinopathy And Enteropathy	X,XR,G	99.86	NA of NA
*GATA3*	Hypoparathyroidism, Sensorineural Deafness, And Renal Disease	AD	100	81 of 81
*GATA4*	Testicular Anomalies With Or Without Congenital Heart Disease, 46,XY Partial Gonadal Dysgenesis, 8p23.1 Microdeletion Syndrome	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 Syndrome, Singleton-Merten Syndrome	AD	99.62	26 of 27
*IFT172*	Retinitis Pigmentosa, Bardet-Biedl Syndrome, Jeune Syndrome, Retinitis Pigmentosa	AR	100	37 of 37
*IFT27*	Bardet-Biedl Syndrome	AR	100	5 of 5
*IL2RG*	X-linked Severe Combined Immunodeficiency, Omenn Syndrome	X,XR,G	99.86	NA of NA
*IL7R*	Autosomal Recessive Severe Combined Immunodeficiency, Omenn Syndrome	AR	100	54 of 55
*IRAK1*	Pediatric Systemic Lupus Erythematosus	–	96.2	NA of NA
*ITGA3*	Interstitial Lung Disease, Nephrotic Syndrome, And Congenital Epidermolysis Bullosa	AR	99.2	11 of 11
*JAK1*	Autoinflammation, Immune Dysregulation, And Eosinophilia	AD	99.92	7 of 8
*KANK2*	Nephrotic Syndrome, Palmoplantar Keratoderma And Woolly Hair	AR	99.92	3 of 3
*LAGE3*	X-linked Galloway -Mowat Syndrome	X,XR,G	91.36	NA of NA
*LAMB2*	Nephrotic Syndrome With Or Without Ocular Abnormalities, Pierson Syndrome, Synaptic Congenital Myasthenic Syndromes	AR	100	129 of 129
*LIG4*	LIG4 Syndrome, Multiple Myeloma, Dubowitz Syndrome, Omenn Syndrome	AR	99.48	46 of 46
*LMNB2*	Barraquer-Simons Syndrome, Progressive Myoclonic Epilepsy, Acquired Partial Lipodystrophy	AD,AR	95.03	5 of 5
*LMX1B*	Nail-Patella Syndrome, 9q33.3q34.11 Microdeletion Syndrome, Nail-Patella-Like Renal Disease	AD	100	191 of 191
*LYZ*	Familial Visceral Amyloidosis	AD	100	10 of 10
*LZTFL1*	Bardet-Biedl Syndrome	AR	99.83	4 of 4
*MAGI2*	Nephrotic Syndrome	AR	93.82	7 of 9
*MAP3K1*	46,XY Sex Reversal, 46,XY Complete Gonadal Dysgenesis, 46,XY Partial Gonadal Dysgenesis	AD	96.5	31 of 32
*MARS1*	Charcot-Marie- Tooth Disease, Interstitial Lung And Liver Disease	AD,AR	99.98	19 of 19
*MEFV*	Familial Mediterranean Fever, Behçet Disease	AD,AR	96.77	174 of 188
*MKKS*	Bardet-Biedl Syndrome, Mckusick-Kaufman Syndrome	AR	89.96	71 of 71
*MKS1*	Bardet-Biedl Syndrome, Joubert Syndrome, Meckel Syndrome	AR	99.98	49 of 49
*MME*	Charcot-Marie-Tooth Disease, Spinocerebellar Ataxia, Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	AD,AR	100	33 of 33
*MYO1E*	Focal Segmental Glomerulosclerosis	AR	100	30 of 30
*NLRP3*	Cinca Syndrome, Familial Cold Inflammatory Syndrome, Keratoendotheliitis Fugax Hereditaria, Muckle-Wells Syndrome	AD	100	152 of 152
*NPHP1*	Nephronophthisis, Senior-Loken Syndrome, Bardet-Biedl Syndrome, Joubert Syndrome With Renal Defect	AR	100	58 of 59
*NPHS1*	Congenital Nephrotic Syndrome	AR	100	351 of 352
*NPHS2*	Autosomal Recessive Steroid-Resistant Nephrotic Syndrome	AR	99.7	209 of 212
*NR0B1*	Congenital Adrenal Hypoplasia, 46,XX Testicular Disorder Of Sex Development, 46,XY Complete Gonadal Dysgenesis , 46,XY Partial Gonadal Dysgenesis	X,XR,G	99.87	NA of NA
*NR5A1*	46,XX Sex Reversal, 46,XY Sex Reversal, 46,XX Gonadal Dysgenesis, 46,XX Ovotesticular Disorder Of Sex Development, 46,XX Testicular Disorder Of Sex Development	AD	99.97	222 of 224
*NUP107*	Galloway-Mowat Syndrome, Nephrotic Syndrome, Ovarian Dysgenesis, 46,XX Gonadal Dysgenesis	AR	99.91	15 of 15
*NUP133*	Galloway-Mowat Syndrome, Nephrotic Syndrome	AR	99.94	6 of 6
*NUP160*	Nephrotic Syndrome	AR	99.96	3 of 3
*NUP205*	Nephrotic Syndrome	AR	98.95	6 of 6
*NUP85*	Nephrotic Syndrome	AR	97.59	5 of 5
*NUP93*	Nephrotic Syndrome	AR	99.91	16 of 17
*OSGEP*	Galloway-Mowat Syndrome	AR	99.17	19 of 19
*PAX2*	Focal Segmental Glomerulosclerosis, Papillorenal Syndrome, Renal Coloboma Syndrome	AD	99.99	100 of 100
*PDSS2*	Primary Coenzyme Q10 Deficiency, Leigh Syndrome With Nephrotic Syndrome	AR	99.99	6 of 6
*PLCE1*	Nephrotic Syndrome	AR	99.93	73 of 73
*PMM2*	Congenital Disorder Of Glycosylation Type Ia	AR	100	127 of 129
*PRKCD*	Common Variable Immunodeficiency, Autoimmune Lymphoproliferative Syndrome	AR	100	9 of 9
*PTPRO*	Nephrotic Syndrome	AR	99.99	10 of 10
*PUS3*	Autosomal Recessive Mental Retardation, Severe Growth Deficiency-Strabismus -Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	AR	99.01	8 of 9
*RAG1*	Combined Cellular And Humoral Immune Defects With Granulomas, Omenn Syndrome, Autosomal Recessive Severe Combined Immunodeficiency	AR	100	193 of 193
*RAG2*	Combined Cellular And Humoral Immune Defects With Granulomas, Omenn Syndrome, Autosomal Recessive Severe Combined Immunodeficiency	AR	100	90 of 91
*RMRP*	Anauxetic Dysplasia, Cartilage-Hair Hypoplasia, Metaphyseal Dysplasia Without Hypotrichosis, Omenn Syndrome	AR	na	na
*SAA1*	Amyloidosis	–	98.45	0 of 1
*SCARB2*	Action Myoclonus-Renal Failure Syndrome, Gaucher Disease Type 1, Unverricht-Lundborg Disease	AR	99.95	29 of 29
*SDCCAG8*	Bardet-Biedl Syndrome, Senior-Loken Syndrome	AR	96.29	18 of 19
*SERPINA1*	Alpha-1-Antitrypsin Deficiency	AR	99.77	107 of 111
*SGPL1*	Nephrotic Syndrome	AR	98.96	18 of 18
*SLC17A5*	Infantile Sialic Acid Storage Disorder	AR	99.91	49 of 49
*SLC35A2*	X-linked Congenital Disorder Of Glycosylation	X,XD,G	99.97	NA of NA
*SMARCAL1*	Schimke Immuno- Osseous Dysplasia	AR	99.94	93 of 93
*SNAP29*	Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratodermasyndrome, Cednik Syndrome	AR	100	13 of 13
*SOX9*	Campomelic Dysplasia, 46,XX Ovotesticular Disorder Of Sex Development , 46,XX Testicular Disorder Of Sex Development , 46,XY Complete Gonadal Dysgenesis, 46,XY Partial Gonadal Dysgenesis, Isolated Pierre Robin Syndrome	AD	97.28	87 of 95
*SPP1*	Pediatric Systemic Lupus Erythematosus	–	99.77	2 of 2
*SRY*	46,XX Sex Reversal, 46,XY Sex Reversal, 45,X/46,XY Mixed Gonadal Dysgenesis, 46,XX Ovotesticular Disorder Of Sex Development , 46,XX Testicular Disorder Of Sex Development, 46,XY Complete Gonadal Dysgenesis, 46,XY Partial Gonadal Dysgenesis	X,XD,Y,G	45	NA of NA
*STAT4*	Behçet Disease, Pediatric Systemic Lupus Erythematosus		99.98	4 of 4
*TBC1D8B*	Nephrotic Syndrome	X,G	98.21	NA of NA
*TBX18*	Congenital Anomalies Of Kidney And Urinary Tract	AD	99.8	9 of 12
*TP53RK*	Galloway-Mowat Syndrome	AR	97.68	5 of 5
*TPRKB*	Galloway-Mowat Syndrome	AR	85.66	2 of 2
*TRIM32*	Bardet-Biedl Syndrome	AR	100	17 of 17
*TRPC6*	Focal Segmental Glomerulosclerosis	AD	99.92	52 of 55
*TTC8*	Bardet-Biedl Syndrome, Retinitis Pigmentosa	AR	99.33	28 of 28
*VAMP7*	46,XY Partial Gonadal Dysgenesis		99.98	NA of NA
*VPS33A*	Mucopolysaccharidosis -Plus Syndrome	AR	97.86	1 of 1
*WDPCP*	Bardet-Biedl Syndrome, Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome, Meckel Syndrome	AR	99.3	8 of 8
*WDR4*	Galloway-Mowat Syndrome, Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	AR	99.91	7 of 7
*WDR73*	Galloway-Mowat Syndrome, Camos Syndrome	AR	95.71	14 of 14
*WT1*	Denys-Drash Syndrome, Frasier Syndrome, Nephrotic Syndrome, Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome Chromosome 11p13 Deletion Syndrome 46,XY Complete Gonadal Dysgenesis, 46,XY Partial Gonadal Dysgenesis, Meacham Syndrome	AD	98.92	178 of 185
*WWOX*	46,XY Partial Gonadal Dysgenesis, Autosomal Recessive Cerebellar Ataxia-Epilepsy -Intellectual Disability Syndrome Due To Wwox Deficiency	AR	99.94	44 of 44
*ZAP70*	Multisystem Autoimmune Disease, Atypical Severe Combined Immunodeficiency	AR	99.99	30 of 30
*ZFPM2*	46,XY Sex Reversal, 46,XY Partial Gonadal Dysgenesis	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; G: Gonosomal Inheritance; D: Digenic Inheritance

** HGMD: Number of clinically relevant mutations according to HGMD

Methodology

References

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