Table 1.

Genes included in the diagnostic 37-gene panel and coverage

Gene	Chromosome	Exons	Size of target (kb), percentage coverage	Inheritance	Accession number	Disease association	Key reference *
ACTN4†	19	21	4.2, 99.8	AD	NM_004924	Familial and sporadic SRNS (usually adult)	S1
ALG1	16	13	2.0, 90.5	AR	NM_019109	Congenital disorder of glycosylation	S2
ALMS1	2	23	13.7, 98.9	AR	NM_015120	Alström syndrome, retinitis pigmentosa, sensorineural hearing loss	S3
APOL1†	2	7	1.9, 97.9	Risk factor	NM_145343	Increased susceptibility to FSGS in African Americans and those of African ancestry	S4
ARHGAP24 †	4	10	2.9, 99.2	AD	NM_001025616	FSGS	S5
ARHGDIA	17	6	1.4, 100	AR	NM_001185077	CNS	S6
CD151	11	9	1.1, 100	AR	NM_004357	NS, pretibial bullous skin lesions, neurosensory deafness, bilateral lacrimal duct stenosis, nail dystrophy, and thalassaemia minor	S7
CD2AP†	6	18	2.8, 99.9	AD/AR	NM_012120	FSGS/SRNS	S8
COL4A3	2	52	8.3, 98.4	AR	NM_000091	Alport syndrome	S9, S10
COL4A4	2	48	7.5, 99.8	AR	NM_000092	Alport syndrome	S9, S10
COL4A5	X	53	7.9, 99.1	X-linked	NM_033380	Alport syndrome	S10
COQ2†	4	7	1.7, 100	AR	NM_015697	Mitochondrial disease, encephalopathy/isolated nephropathy	S11
COQ6†	14	12	2.3, 100	AR	NM_182476	NS ± sensorineural deafness; DMS	S12
COQ7	16	6	1.1, 100	AR	NM_016138	Mitochondrial disease, encephalopathy	S13
COQ9	16	9	1.5, 99.8	AR	NM_020312	Mitochondrial disease, encephalopathy, renal tubulopathy	S14
CYP11B2	8	9	2.0, 97.0	Association	NM_000498	Corticosterone methyloxidase deficiency, familial hyperaldosteronism	S15
E2F3	6	7	1.8, 99.5	AD	NM_001949	FSGS + mental retardation (whole gene deletion)	S16
INF2†	14	23	5.2, 97.8	AD	NM_022489	Familial and sporadic SRNS, FSGS-associated Charcot-Marie-Tooth disease	S17
ITGA3	17	26	4.8, 98.6	AR	NM_002204	Interstitial lung disease, CNS and mild epidermolysis bullosa	S18
ITGB4	17	40	7.8, 99.4	AR	NM_000213	Epidermolysis bullosa and pyloric atresia, FSGS	S19
KANK2	19	11	3.1, 100	AR	NM_015493	SSNS/SDNS ± haematuria	S20
LAMB2†	3	32	7.0, 100	AR	NM_002292	Pierson syndrome	S21
LMX1B†	9	8	1.6, 99.4	AD	NM_002316	Nail patella syndrome; also FSGS without extrarenal involvement	S22
MED28	4	4	0.8, 100	AR	NM_025205	NS	S23
MYH9	22	41	8.2, 100	AD, association	NM_002473	MYH9-related disease; Epstein and Fechtner syndromes	S24
MYO1E†	15	28	5.0, 99.9	AR	NM_004998	Familial SRNS	S25, S26
NPHS1†	19	29	5.2, 99.9	AR	NM_004646	CNS/SRNS	S27
NPHS2†	1	8	1.6, 100	AR	NM_014625	CNS/SRNS	S28
PDSS2	6	8	1.9, 99.4	AR	NM_020381	Leigh syndrome	S29
PLCE1†	10	33	8.9, 99.7	AR	NM_016341	CNS/SRNS	S30
PMM2	16	8	1.4, 100	AR	NM_000303	Congenital disorder of glycosylation	S31
PTPRO†	12	27	5.0, 99.7	AR	NM_030667	NS	S32
SCARB2	4	12	2.1, 100	AR	NM_005506	Action myoclonus-renal failure syndrome ± hearing loss	S33
SMARCAL1	2	18	3.8, 99.9	AR	NM_014140	Schimke immuno-osseous dysplasia	S34
TRPC6†	11	13	3.4, 98.8	AD	NM_004621	Familial and sporadic SRNS (mainly adults)	S35
WT1†	11	10	2.1, 99.1	AD	NM_024426_449AAs.3	Sporadic SRNS (children—may be associated with abnormal genitalia); Denys-Drash and Frasier syndrome	S36
ZMPSTE24	1	10	1.9, 100	AR	NM_005857	Mandibuloacral dysplasia with FSGS	S37

*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.