Unexplained kidney failure in young people
Gene: UMODComment when marking as ready: Associated with phenotype in OMIM, not in G2P. Numerous variants reported in Hyperuricemic nephropathy, familial juvenile 1 162000 and one each in Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886 and Medullary cystic kidney disease 2 603860Created: 5 Aug 2016, 12:51 p.m.
Phenotypes and mode of inheritance sourced from OMIM.Created: 11 Jan 2016, 11:53 a.m.
Phenotypes for gene: UMOD were changed from Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886; Hyperuricemic nephropathy, familial juvenile 1 162000; Medullary cystic kidney disease 2 603860 to Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886; Hyperuricemic nephropathy, familial juvenile 1 162000; Medullary cystic kidney disease 2 603860
Promoted to version 1 17th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for UMOD were set to Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886; Hyperuricemic nephropathy, familial juvenile 1 162000; Medullary cystic kidney disease 2 603860
UMOD was added to Unexplained kidney failure in young peoplepanel. Sources: Emory Genetics Laboratory
Phenotypes for UMOD were set to Hyperuricemic nephropathy, familial juvenile 1 162000
UMOD was added to Unexplained kidney failure in young peoplepanel. Sources: Other,Eligibility statement prior genetic testing,UKGTN,Radboud University Medical Center, Nijmegen,Expert list,Expert Review,Illumina TruGenome Clinical Sequencing Services
UMODAll sources for gene: UMOD were removed
UMOD was added to Unexplained kidney failure in young peoplepanel. Source: Illumina TruGenome Clinical Sequencing Services UMOD was added to Unexplained kidney failure in young peoplepanel. Source: Expert Review Red Model of inheritance for gene UMOD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
UMOD was added to Unexplained kidney failure in young peoplepanel. Source: Emory Genetics Laboratory UMOD was added to Unexplained kidney failure in young peoplepanel. Source: Expert UMOD was added to Unexplained kidney failure in young peoplepanel. Source: Expert Review Green
UMOD was added to Unexplained kidney failure in young peoplepanel. Source: Illumina TruGenome Clinical Sequencing Services
UMOD was added to Unexplained kidney failure in young peoplepanel. Source: UKGTN
UMOD was added to Unexplained kidney failure in young peoplepanel. Source: Radboud University Medical Center, Nijmegen
Phenotypes for gene UMOD were set to Hyperuricemic nephropathy, familial juvenile 1 (AD); Medullary cystic kidney disease 2; Glomerulocystic kidney disease with hyperuricemia and isosthenuria; personal or family history of gout under age of 30 in the absence of CKD stage 3, 4 or 5
UMOD was created by ellenmcdonagh
UMOD was added to Unexplained kidney failure in young peoplepanel. Sources: Eligibility statement prior genetic testing,Other