Table 2. [Nonsyndromic Genetic SRNS: Genes and Distinguishing Clinical Features]. - GeneReviews®

Gene ¹	MOI	% of All Nonsyndromic SRNS	Typical Age at Onset of SRNS	Reference
ACTN4	AD	~1%	Usually late (adult)	OMIM 603278
ANKFY1		<1%	Childhood	OMIM 607927
ANLN	AD	<1%	Mainly late (adult)	OMIM 616032
APOL1	Risk allele	No data ²	↑ susceptibility in African Americans, Hispanic Americans, & persons of African descent	OMIM 612551
ARHGAP24	AR	<1%	Mainly late (adult)	OMIM 610586
CD2AP	AD/AR	<1%	Childhood & adult	OMIM 607832
COL4A3 ³ COL4A4 ³ COL4A5 ³	XL AR AD Digenic	~10%-30% (esp if onset in/after 2nd decade)	Mainly late (adolescent & adult)	Gast et al [2016]
COQ8B ³ (ADCK4)	AR	3%-5%	Childhood & adult	OMIM 615573
CRB2 ³	AR	<1%	Childhood	OMIM 609720
GAPVD1	AR	<1%	Childhood	OMIM 611714
INF2 ³	AD	3%	Mainly late (adolescent & adult)	OMIM 613237
LAMA5	AR	<1%	Childhood	OMIM 601033
LMX1B ³	AD	3%-5% (esp if onset in/after 2nd decade)	Mainly late (adolescent & adult)	OMIM 256020
MYO1E	AR	<1%	Childhood	OMIM 614131
NPHS1	AR	10%-20% (≤50% in CNS)	CNS (Finnish type) or childhood SRNS	OMIM 602716
NPHS2	AR	20%-30% (≤40% in CNS)	CNS or childhood & adult SRNS	OMIM 600995
NUP133 ⁴	AR	<1%	Childhood	OMIM 607613
NUP160 ⁴	AR	<1%	Childhood	OMIM 618178
NUP93 ^4, 5	AR	<1%	Childhood	OMIM 616892
PLCE1	AR	3%	CNS or childhood SNRS	OMIM 610725
PTPRO	AR	<1%	Childhood	OMIM 614196
TBC1D8B	XL	<1%	Childhood	OMIM 301028
TRPC6	AD	3%	Childhood & adult	OMIM 603965
TTC21B	AR	<1%	Childhood & adult	Nephronophthisis
WT1 ³	AD	10%-20%	CNS or childhood & adult SRNS	WT1 Disorder
XPO5	AR	<1%	Childhood	OMIM 607845

Gene ¹

MOI

% of All
Nonsyndromic
SRNS

Typical Age at Onset of SRNS

Reference

ACTN4

~1%

Usually late (adult)

OMIM 603278

ANKFY1

<1%

Childhood

OMIM 607927

ANLN

<1%

Mainly late (adult)

OMIM 616032

APOL1

Risk allele

No data ²

↑ susceptibility in African Americans, Hispanic Americans, & persons of African descent

OMIM 612551

ARHGAP24

<1%

Mainly late (adult)

OMIM 610586

CD2AP

AD/AR

<1%

Childhood & adult

OMIM 607832

COL4A3 ³
COL4A4 ³
COL4A5 ³

XL
AR
AD
Digenic

~10%-30% (esp if onset in/after 2nd decade)

Mainly late (adolescent & adult)

Gast et al [2016]

COQ8B ³
(ADCK4)

3%-5%

Childhood & adult

OMIM 615573

CRB2 ³

<1%

Childhood

OMIM 609720

GAPVD1

<1%

Childhood

OMIM 611714

INF2 ³

Mainly late (adolescent & adult)

OMIM 613237

LAMA5

<1%

Childhood

OMIM 601033

LMX1B ³

3%-5% (esp if onset in/after 2nd decade)

Mainly late (adolescent & adult)

OMIM 256020

MYO1E

<1%

Childhood

OMIM 614131

NPHS1

10%-20% (≤50% in CNS)

CNS (Finnish type) or childhood SRNS

OMIM 602716

NPHS2

20%-30% (≤40% in CNS)

CNS or childhood & adult SRNS

OMIM 600995

NUP133 ⁴

<1%

Childhood

OMIM 607613

NUP160 ⁴

<1%

Childhood

OMIM 618178

NUP93 ^4, 5

<1%

Childhood

OMIM 616892

PLCE1

CNS or childhood SNRS

OMIM 610725

PTPRO

<1%

Childhood

OMIM 614196

TBC1D8B

<1%

Childhood

OMIM 301028

TRPC6

Childhood & adult

OMIM 603965

TTC21B

<1%

Childhood & adult

Nephronophthisis

WT1 ³

10%-20%

CNS or childhood & adult SRNS

WT1 Disorder

XPO5

<1%

Childhood

OMIM 607845

From: Genetic Steroid-Resistant Nephrotic Syndrome Overview

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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