Table 1

Genes included in the diagnostic 37-gene panel and coverage

GeneChromosomeExonsSize of target (kb), percentage coverageInheritanceAccession numberDisease associationKey reference *
ACTN419214.2, 99.8ADNM_004924Familial and sporadic SRNS (usually adult)S1
ALG1 16132.0, 90.5ARNM_019109Congenital disorder of glycosylationS2
ALMS1 22313.7, 98.9ARNM_015120Alström syndrome, retinitis pigmentosa, sensorineural hearing lossS3
APOL1271.9, 97.9Risk factorNM_145343Increased susceptibility to FSGS in African Americans and those of African ancestryS4
ARHGAP244102.9, 99.2ADNM_001025616FSGSS5
ARHGDIA 1761.4, 100ARNM_001185077CNSS6
CD151 1191.1, 100ARNM_004357NS, pretibial bullous skin lesions, neurosensory deafness, bilateral lacrimal duct stenosis, nail dystrophy, and thalassaemia minorS7
CD2AP6182.8, 99.9AD/ARNM_012120FSGS/SRNSS8
COL4A3 2528.3, 98.4ARNM_000091Alport syndromeS9, S10
COL4A4 2487.5, 99.8ARNM_000092Alport syndromeS9, S10
COL4A5 X537.9, 99.1X-linkedNM_033380Alport syndromeS10
COQ2471.7, 100ARNM_015697Mitochondrial disease, encephalopathy/isolated nephropathyS11
COQ614122.3, 100ARNM_182476NS ± sensorineural deafness; DMSS12
COQ7 1661.1, 100ARNM_016138Mitochondrial disease, encephalopathyS13
COQ9 1691.5, 99.8ARNM_020312Mitochondrial disease, encephalopathy, renal tubulopathyS14
CYP11B2 892.0, 97.0AssociationNM_000498Corticosterone methyloxidase deficiency, familial hyperaldosteronismS15
E2F3 671.8, 99.5ADNM_001949FSGS + mental retardation (whole gene deletion)S16
INF214235.2, 97.8ADNM_022489Familial and sporadic SRNS, FSGS-associated Charcot-Marie-Tooth diseaseS17
ITGA3 17264.8, 98.6ARNM_002204Interstitial lung disease, CNS and mild epidermolysis bullosaS18
ITGB4 17407.8, 99.4ARNM_000213Epidermolysis bullosa and pyloric atresia, FSGSS19
KANK2 19113.1, 100ARNM_015493SSNS/SDNS ± haematuriaS20
LAMB23327.0, 100ARNM_002292Pierson syndromeS21
LMX1B981.6, 99.4ADNM_002316Nail patella syndrome; also FSGS without extrarenal involvementS22
MED28 440.8, 100ARNM_025205NSS23
MYH9 22418.2, 100AD, associationNM_002473MYH9-related disease; Epstein and Fechtner syndromesS24
MYO1E15285.0, 99.9ARNM_004998Familial SRNSS25, S26
NPHS119295.2, 99.9ARNM_004646CNS/SRNSS27
NPHS2181.6, 100ARNM_014625CNS/SRNSS28
PDSS2 681.9, 99.4ARNM_020381Leigh syndromeS29
PLCE110338.9, 99.7ARNM_016341CNS/SRNSS30
PMM2 1681.4, 100ARNM_000303Congenital disorder of glycosylationS31
PTPRO12275.0, 99.7ARNM_030667NSS32
SCARB2 4122.1, 100ARNM_005506Action myoclonus-renal failure syndrome ± hearing lossS33
SMARCAL1 2183.8, 99.9ARNM_014140Schimke immuno-osseous dysplasiaS34
TRPC611133.4, 98.8ADNM_004621Familial and sporadic SRNS (mainly adults)S35
WT111102.1, 99.1ADNM_024426_449AAs.3Sporadic SRNS (children—may be associated with abnormal genitalia); Denys-Drash and Frasier syndromeS36
ZMPSTE24 1101.9, 100ARNM_005857Mandibuloacral dysplasia with FSGSS37
  • *All references in this table are included as supplementary material.

  • †Indicates genes included in the initial 16-gene panel.

  • AD, autosomal dominant; AR, autosomal recessive; CNS, congenital nephrotic syndrome; DMS, diffuse mesangial sclerosis; FSGS, focal segmental glomerulosclerosis; NS, nephrotic syndrome; SDNS, steroid-dependent nephrotic syndrome; SRNS, steroid-resistant nephrotic syndrome; SSNS, steroid-sensitive nephrotic syndrome.