PrecisionNephrology.org
Precision Medicine in Renal Transplant Recipients
Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients
Nina Mann et al., JASN Feb 2019, 30 (2) 201-215
The identification of monogenic mutations in one of the following genes may have clinical consequences for pre- and post-transplant management. Here we provide a knowledge base for each gene. 
Dear colleagues, please provide us with comments and critique at the following email address: mutations@renalgenes.org
4p13 Deletion   [OMIM]
Wolf-Hirschhorn Syndrome

17q12 Deletion   [OMIM]
Renal Cysts and Diabetes Syndrome

ACTN4   [OMIM]
Focal Segmental Glomerulosclerosis 1

ADCK4   [OMIM]
Nephrotic Syndrome type 9
 
AGXT   [OMIM]
Primary Hyperoxaluria, type 1

AHI1   [OMIM]
Joubert Syndrome 3 (JSRD3)

ANKFY1   [OMIM]
Nephrotic Syndrome

ARHGDIA   [OMIM]
Nephrotic Syndrome type 8

AVIL   [OMIM]
Nephrotic Syndrome type 21

BBS2   [OMIM]
Bardet-Biedl Syndrome 2, ciliopathy

BBS7   [OMIM]
Bardet-Biedl Syndrome 7, ciliopathy

BBS12   [OMIM]
Bardet-Biedl Syndrome 12

BMP4   [OMIM]
Microphthalmia, syndromic 6

CD2AP   [OMIM]
Focal Segmental Glomerulosclerosis 3

CDK20   [OMIM]
Nephrotic Syndrome

CEP83   [OMIM]
Nephronophthisis

CEP164   [OMIM]
Nephronophthisis 15 (NPHP15)

CEP290   [OMIM]
Joubert Syndrome 5

COL4A3   [OMIM]
Alport syndrome, Benign Familial Hematuria (BFH), Thin Basement Membrane Disease (TBMD)

COL4A4   [OMIM]
Alport syndrome, Benign Familial Hematuria (BFH), Thin Basement Membrane Disease (TBMD)

COL4A5   [OMIM]
Alport Syndrome

COQ2   [OMIM]
Nephrotic Syndrome, Mitochondrial Disease

COQ6   [OMIM]
Nephrotic Syndrome, Mitochondrial Disease

CRB2   [OMIM]
Focal Segmental Glomerulosclerosis 9

CUBN   [OMIM]
Megaloblastic Anemia, Finnish type; Imerslund-Grasbeck Syndrome 1

DGKE   [OMIM]
Nephrotic Syndrome type 7

DLC1   [OMIM]
Nephrotic Syndrome

DYNC2H1   [OMIM]
Short Rib Thoracic Dysplasia, with or without polydactyly

EMP2   [OMIM]
Nephrotic Syndrome type 10

EVC2   [OMIM]
Ellis-van Creveld Syndrome

EYA1    [OMIM]
Branchio-Oto-Renal Syndrome (BOR)

FAT1   [OMIM]
Nephrotic Syndrome

GAPVD1   [OMIM]
Nephrotic Syndrome

GON7   [OMIM]
Nephrotic Syndrome (Galloway-Mowat Syndrome)

GREB1L   [OMIM]
Renal hypodysplasia/aplasia 3

HNF1B   [OMIM]
Renal Cysts and Diabetes Syndrome

IFT27   [OMIM]
Bardet-Biedl Syndrome 19 (BBS19)

IFT172   [OMIM]
Retinitis Pigmentosa 71, Jeune Syndrome, Mainzer-Saldino Syndrome, Bardet-Biedl Syndrome 20

INF2   [OMIM]
Charcot-Marie-Tooth, FSGS

INPP5E   [OMIM]
Joubert Syndrome, MORM Syndrome

INVS   [OMIM]
Infantile Nephronophthisis type 2

IQCB1   [OMIM]
Senior-Loken Syndrome 5 (SLSN5, NPHP5)

ITSN1   [OMIM]
Nephrotic Syndrome

ITSN2   [OMIM]
Nephrotic Syndrome
JAG1   [OMIM]
Alagille Syndrome

KANK1   [OMIM]
Nephrotic Syndrome

KANK2   [OMIM]
Nephrotic Syndrome type 16

KANK4   [OMIM]
Nephrotic Syndrome

Nephrotic Syndrome

LAGE3   [OMIM]
Nephrotic Syndrome, Galloway-Mowat Syndrome

LAMB2   [OMIM]
Nephrotic Syndrome, Pierson Syndrome

LMX1B   [OMIM]
Nail-Patella Syndrome, FSGS 10

MAGI2   [OMIM]
Nephrotic Syndrome type 15

MYCN   [OMIM]
Feingold Syndrome

MYO1E   [OMIM]
Focal Segmental Glomerulosclerosis 6

Nephronophthisis, Joubert Syndrome,
Senior-Loken Syndrome

NPHP3   [OMIM]
Adolescent Nephronophthisis type 3

NPHP4   [OMIM]
Nephronophthisis type 4, Senior-Loken Syndrome 4

NPHS1   [OMIM]
Nephrotic Syndrome

NPHS2   [OMIM]
Nephrotic Syndrome

NUP85   [OMIM]
Nephrotic Syndrome type 17

NUP93   [OMIM]
Nephrotic Syndrome

NUP107   [OMIM]
Gallow-Mowat Syndrome 7, Nephrotic Syndrome type 11

NUP133   [OMIM]
Gallow-Mowat Syndrome 8, Nephrotic Syndrome type 18

NUP205   [OMIM]
Nephrotic Syndrome type 13

OFD1   [OMIM]
Oral-facial-digital Syndrome 1, Joubert Syndrome 10

OSGEP   [OMIM]
Nephrotic Syndrome, Galloway-Mowat Syndrome

PAX2   [OMIM]
Focal Segmental Glomerulosclerosis 7, Papillorenal Syndrome

PDSS2   [OMIM]
Coenzyme Q10 deficiency, primary, 3

PKD1   [OMIM]
Autosomal Dominant Polycystic Kidney Disease

PKD2   [OMIM]
Autosomal Dominant Polycystic Kidney Disease

PKHD1   [OMIM]
Autosomal Recessive Polycystic Kidney Disease

PLCE1   [OMIM]
Nephrotic Syndrome

ROBO2   [OMIM]
Vesicoureteral reflux 2

SALL1   [OMIM]
Townes-Brocks Syndrome

SCARB2   [OMIM]
Progressive myoclonic epilepsy, with or without renal failure

Bardet-Biedl Syndrome 16, Nephronophthisis type 10, Senior-Loken Syndrome 7 

SGPL1   [OMIM]
Sphingosine phosphate lyase insufficiency syndrome (SPLIS)

SLIT2   [OMIM]
CAKUT

SRGAP1   [OMIM]
CAKUT

Nephrotic Syndrome type 20

Joubert Syndrome 20 (JBTS 20)

TNS2   [OMIM]
Nephrotic Syndrome

TP53RK   [OMIM]
Nephrotic Syndrome, Galloway-Mowat Syndrome

TPRKB   [OMIM]
Nephrotic Syndrome, Galloway-Mowat Syndrome

TRAP1   [OMIM]
CAKUT, VACTERL

TRPC6   [OMIM]
Focal segmental glomerulosclerosis (FSGS)

TTC21B   [OMIM]
Nephronophthisis, FSGS

WDR4   [OMIM]
Nephrotic Syndrome (Galloway-Mowat Syndrome)

WDR73   [OMIM]
Nephrotic Syndrome (Galloway-Mowat Syndrome 1)

WT1   [OMIM]
Denys-Drash Syndrome, Frasier Syndrome

YRDC   [OMIM]
Nephrotic Syndrome (Galloway-Mowat Syndrome)
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