Listen Hildebrandt Lab Research | Overview 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
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