Supplementary Table 1. Alphabetic List of Monogenic SRNS Genes in Panel Sequencing

Supplementary Table 1. Alphabetic List of Monogenic SRNS Genes in Panel Sequencing

Supplementary Table 1. Alphabetic list of monogenic SRNS genes in panel sequencing.

Gene / Gene name / Accession # / Chromosome / First publication of SRNS causation
Recessive mode of inheritance
ADCK4 / aarF domain containing kinase 4 / NM_024876.3 / 19 / Ashraf et al. (2013) [1]
ARHGDIA / Rho GDP dissociation inhibitor (GDI) alpha / NM_001185078.2 / 17 / Gee et al. (2013) [2]
CD2AP / CD2-associated protein / NM_012120.2 / 6 / Lowik (2007) Kidney Int 72, 1198 [3]
CFH / Complement factor H / NM_000186.3 / 1 / Sethi (2012) Am J Kidney Dis 60, 316 [4]
COQ2 / Coenzyme Q2 4-hydroxybenzoate polyprenyltransferase / NM_015697.7 / 4 / Diomedi-Camassei (2007) J Am Soc Nephrol 18, 2773 [5]
COQ6 / Coenzyme Q6 monooxygenase / NM_182476.2 / 14 / Heeringa (2011) J Clin Invest 121, 2013 [6]
CUBN / Cubilin (intrinsic factor-cobalamin receptor) / NM_001081.3 / 10 / Ovunc (2011) J Am Soc Nephrol 22, 1815 [7]
DGKE / Diacylglycerol kinase, epsilon 64kDa / NM_003647.2 / 17 / Ozaltin (2013) J Am Soc Nephrol 24, 377 [8]
ITGA3 / Integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) / NM_005501.2 / 17 / Has (2012) N Engl J Med 366, 1508 [9]
ITGB4 / Integrin, beta 4 / NM_000213.3 / 17 / Kambham (2000) Am J Kidney Dis [10]
LAMB2 / Laminin, beta 2 (laminin S) / NM_002292.3 / 3 / Zenker (2004) Hum Mol Genet 13, 2625 [11]
MYO1E / Myosin IE / NM_004998.3 / 15 / Mele (2011) N Engl J Med 365, 295 [12]
NPHS1 / Nephrosis 1, congenital, Finnish type (nephrin) / NM_004646.3 / 19 / Kestila (1998) Mol Cell 1, 575 [13]
NPHS2 / Nephrosis 2, idiopathic, steroid-resistant (podocin) / NM_014625.2 / 1 / Boute (2000) Nat Genet 24, 349 [14]
PDSS2 / Prenyl (decaprenyl) diphosphate synthase, subunit 2 / NM_020381.3 / 6 / Lopez (2006) Am J Hum Genet 79, 1125 [15]
PLCE1 / Phospholipase C, epsilon 1 / NM_016341.3 / 10 / Hinkes (2006) Nat Genet 38, 1397 [16]
PTPRO / Protein tyrosine phosphatase, receptor type, O / NM_030667.2 / 12 / Ozaltin (2011) Am J Hum Genet 89, 139 [17]
SMARCAL1 / SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 / NM_014140.3 / 2 / Boerkoel (2002) Nat Genet 30, 215 [18]
Dominant mode of inheritance
ACTN4 / Actinin, alpha 4 / NM_004924.4 / 19 / Kaplan (2000) Nat Genet 24, 251 [19]
ARHGAP24 / Rho GTPase activating protein 24 Homo sapiens Rho GTPase activating protein 24 / NM_001025616.2 / 4 / Akilesh (2011) J Clin Invest 121, 4127 [20]
INF2 / Inverted formin, FH2 and WH2 domain containing / NM_022489.3 / 14 / Brown (2010) Nat Genet 42, 72 [21]
LMX1B / LIM homeobox transcription factor 1, beta / NM_001174147.1 / 9 / Dreyer (1998) Nat Genet 19, 47 [22]
TRPC6 / Transient receptor potential cation channel, subfamily C, member 6 / NM_004621.5 / 11 / Winn (2005) Science 308, 1801 [23]; Reiser et al (2005) Nature Genetics 37: 739-44 [24]
WT1 / Wilms tumor 1, transcript variant D / NM_024426.4 / 11 / Jeanpierre (1998) Am J Hum Genet 62, 824 [25]

References for Supplementary Table 1

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2 Gee HY, Saisawat P, Ashraf S, Hurd TW, Vega-Warner V, Fang H, Beck BB, Gribouval O, Zhou W, Diaz KA, Natarajan S, Wiggins RC, Lovric S, Chernin G, Schoeb DS, Ovunc B, Frishberg Y, Soliman NA, Fathy HM, Goebel H, Hoefele J, Weber LT, Innis JW, Faul C, Han Z, Washburn J, Antignac C, Levy S, Otto EA, Hildebrandt F (2013) ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling. J Clin Invest 123:3243-3253

3 Lowik MM, Groenen PJ, Pronk I, Lilien MR, Goldschmeding R, Dijkman HB, Levtchenko EN, Monnens LA, van den Heuvel LP (2007) Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation. Kidney Int 72:1198-1203

4 Sethi S, Fervenza FC, Zhang Y, Smith RJ (2012) Secondary focal and segmental glomerulosclerosis associated with single-nucleotide polymorphisms in the genes encoding complement factor H and C3. Am J Kidney Dis 60:316-321

5 Diomedi-Camassei F, Di Giandomenico S, Santorelli FM, Caridi G, Piemonte F, Montini G, Ghiggeri GM, Murer L, Barisoni L, Pastore A, Muda AO, Valente ML, Bertini E, Emma F (2007) COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement. J Am Soc Nephrol 18:2773-2780

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