Targeted gene panel for genetic testing of south Indian children with steroid resistant nephrotic syndrome

BMC Medical Genetics

Table 1 Genes included in the targeted NS panel to screen genetic variant in Indian SRNS cohort (to be placed after Page 5)

Gene	Accession #	Disease	Inheritance	# exons covered	# exons not covered	# primer pairs
ACTN4^a	NM_004924	Familial and sporadic SRNS (usually adult)	AD	21	–	25
ADCK4	NM_024876	SRNS	AR	13	1	15
CD2AP	NM_012120	FSGS/SRNS	AD/AR	18	–	20
COQ2	NM_015697	Mitochondrial disease/isolated nephropathy	AR	7	–	9
COQ6	NM_182476	NS + sensorineural deafness; DMS	AR	11	1	13
INF2	NM_022489	Familial and sporadic SRNS, FSGS-associated Charcot-Marie-Tooth neuropathy	AD	22	1	37
LAMB2	NM_002292	Pierson syndrome	AR	32	1	35
LMX1B	NM_002316	Nail patella syndrome; also FSGS without extrarenal involvement	AD	8	2	13
MYO1E	NM_004998	Familial SRNS	AR	28	–	28
NEIL1	NM_024608	childhood SRNS	AR	11	–	12
NPHS1	NM_004646	CNS/SRNS	AR	29	–	32
NPHS2^a	NM_014625	CNS, SRNS	AR	8	–	10
PDSS2	NM_020381	Leigh syndrome	AR	8	–	9
PLCe1^a	NM_016341	CNS/SRNS	AR	32	–	42
PTPRO	NM_030667	NS	AR	25	2	28
TRPC6	NM_004621	Familial and sporadic SRNS (mainly adult)	AD	13		18
WT1	NM_024426	Sporadic SRNS (children: may be associated with abnormal genitalia); Denys-Drash and Frasier syndrome	AD	10	–	13

AD autosomal dominant, AR autosomal recessive, DMS diffuse mesangial sclerosis, ESRD end-stage renal disease, FSGS focal segmental glomerulosclerosis, NS nephrotic syndrome, SDNS steroid-dependent nephrotic syndrome, SRNS steroid resistant nephrotic syndrome. ^aGenes with a likely or known mutation, or a risk allele, in this cohort

ISSN: 1471-2350