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]
HNF1B [OMIM]
Wolf-Hirschhorn Syndrome
Renal Cysts and Diabetes Syndrome
Focal Segmental Glomerulosclerosis 1
Nephrotic Syndrome type 9
Primary Hyperoxaluria, type 1
Joubert Syndrome 3 (JSRD3)
Nephrotic Syndrome
Nephrotic Syndrome type 8
Nephrotic Syndrome type 21
Bardet-Biedl Syndrome 2, ciliopathy
Bardet-Biedl Syndrome 7, ciliopathy
Bardet-Biedl Syndrome 12
Microphthalmia, syndromic 6
Focal Segmental Glomerulosclerosis 3
Nephrotic Syndrome
Nephronophthisis
Nephronophthisis 15 (NPHP15)
Joubert Syndrome 5
Alport syndrome, Benign Familial Hematuria (BFH), Thin Basement Membrane Disease (TBMD)
Alport syndrome, Benign Familial Hematuria (BFH), Thin Basement Membrane Disease (TBMD)
Alport Syndrome
Nephrotic Syndrome, Mitochondrial Disease
Nephrotic Syndrome, Mitochondrial Disease
Focal Segmental Glomerulosclerosis 9
Megaloblastic Anemia, Finnish type; Imerslund-Grasbeck Syndrome 1
Nephrotic Syndrome type 7
Nephrotic Syndrome
Short Rib Thoracic Dysplasia, with or without polydactyly
Nephrotic Syndrome type 10
Ellis-van Creveld Syndrome
Branchio-Oto-Renal Syndrome (BOR)
Nephrotic Syndrome
Nephrotic Syndrome
Nephrotic Syndrome (Galloway-Mowat Syndrome)
Renal hypodysplasia/aplasia 3
Renal Cysts and Diabetes Syndrome
Bardet-Biedl Syndrome 19 (BBS19)
Retinitis Pigmentosa 71, Jeune Syndrome, Mainzer-Saldino Syndrome, Bardet-Biedl Syndrome 20
Charcot-Marie-Tooth, FSGS
Joubert Syndrome, MORM Syndrome
Infantile Nephronophthisis type 2
Senior-Loken Syndrome 5 (SLSN5, NPHP5)
Nephrotic Syndrome
Nephrotic Syndrome
Alagille Syndrome
Nephrotic Syndrome
Nephrotic Syndrome type 16
Nephrotic Syndrome
Nephrotic Syndrome
Nephrotic Syndrome, Galloway-Mowat Syndrome
Nephrotic Syndrome, Pierson Syndrome
Nail-Patella Syndrome, FSGS 10
Nephrotic Syndrome type 15
Feingold Syndrome
Focal Segmental Glomerulosclerosis 6
Nephronophthisis, Joubert Syndrome,
Senior-Loken Syndrome
Adolescent Nephronophthisis type 3
Nephronophthisis type 4, Senior-Loken Syndrome 4
Nephrotic Syndrome
Nephrotic Syndrome
Nephrotic Syndrome type 17
Nephrotic Syndrome
Gallow-Mowat Syndrome 7, Nephrotic Syndrome type 11
Gallow-Mowat Syndrome 8, Nephrotic Syndrome type 18
Nephrotic Syndrome type 13
Oral-facial-digital Syndrome 1, Joubert Syndrome 10
Nephrotic Syndrome, Galloway-Mowat Syndrome
Focal Segmental Glomerulosclerosis 7, Papillorenal Syndrome
Coenzyme Q10 deficiency, primary, 3
Autosomal Dominant Polycystic Kidney Disease
Autosomal Dominant Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease
Nephrotic Syndrome
Vesicoureteral reflux 2
Townes-Brocks Syndrome
Progressive myoclonic epilepsy, with or without renal failure
Bardet-Biedl Syndrome 16, Nephronophthisis type 10, Senior-Loken Syndrome 7
Sphingosine phosphate lyase insufficiency syndrome (SPLIS)
CAKUT
CAKUT
Nephrotic Syndrome type 20
Joubert Syndrome 20 (JBTS 20)
Nephrotic Syndrome
Nephrotic Syndrome, Galloway-Mowat Syndrome
Nephrotic Syndrome, Galloway-Mowat Syndrome
CAKUT, VACTERL
Focal segmental glomerulosclerosis (FSGS)
Nephronophthisis, FSGS
Nephrotic Syndrome (Galloway-Mowat Syndrome)
Nephrotic Syndrome (Galloway-Mowat Syndrome 1)
Denys-Drash Syndrome, Frasier Syndrome
Nephrotic Syndrome (Galloway-Mowat Syndrome)