Unexplained young onset end-stage renal disease
Gene: UMOD
Red review was for the gene on another panel.Created: 24 Oct 2019, 2:30 p.m. | Last Modified: 24 Oct 2019, 2:30 p.m.
Panel Version: 0.50
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of GreenCreated: 9 Apr 2019, 11:17 a.m.
Comment 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.
Comment on list classification: Not CAKUT associated.Created: 25 Apr 2016, 1:05 p.m.
Comment on list classification: Demoted from green due to comment from a second reviewer.Created: 22 Apr 2016, 12:30 p.m.
In humans UMOD mutations are generally associated with medullary cystic kidneys. In the late stage of disease these may appear small and contain cysts but these are more correctly thought of as acquired problems rather than being present at birth.Created: 22 Apr 2016, 11:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotype is associated with missense mutations/in-frame insert/deletion predicted to cause protein miss-folding.
This gene is not associated with CAKUT pe se - typically cysts are late feature.Created: 16 Oct 2015, 3:16 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Medullary cystic kidney disease type 2; Glomerulocystic kidney disease with hyperuricemia; Juvenile Hyperuricemic nephropathy
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
gene: UMOD was added gene: UMOD was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green Mode of inheritance for gene: UMOD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: UMOD were set to Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886; Uromodulin-associated kidney disease; Hyperuricemic nephropathy, familial juvenile 1 162000; Medullary cystic kidney disease 2 603860; Medullary Cystic Kidney Disease 2; Hyperuricemic nephropathy, familial juvenile 1, 162000