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Overview

 

Visual abstract ASN Whole exome sequencing

Download the paper: 
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.

 

4p13 Deletion [OMIM]
Wolf-Hirschhorn Syndrome

17q12 Deletion [OMIM]
Renal Cysts and Diabetes Syndrome

AGXT [OMIM]
Primary Hyperoxaluria, type 1

CEP83 [OMIM]
Nephronophthisis

COL4A5 [OMIM]
Alport Syndrome

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

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

HNF1B [OMIM]
Renal Cysts and Diabetes Syndrome

INF2 [OMIM]
Charcot-Marie-Tooth, FSGS

JAG1 [OMIM]
Alagille Syndrome

MYCN [OMIM]
Feingold Syndrome

NPHP1 [OMIM]
Nephronophthisis, Joubert Syndrome, Senior-Loken Syndrome

NPHS1 [OMIM]
Nephrotic Syndrome

NPHS2 [OMIM]
Nephrotic Syndrome

NUP93 [OMIM]
Nephrotic Syndrome

PKHD1 [OMIM]
Autosomal Recessive Polycystic Kidney Disease

PLCE1 [OMIM]
Nephrotic Syndrome

SALL1 [OMIM]
Townes-Brocks Syndrome

TRPC6 [OMIM]
Focal segmental glomerulosclerosis (FSGS)

TTC21B [OMIM]
Nephronophthisis, FSGS

WT1 [OMIM]
Denys-Drash Syndrome, Frasier Syndrome