UMOD

uromodulin
OMIM: 191845, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Red UMOD in Thoracic dystrophies Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.20	review	Not set	Sources Emory Genetics Laboratory
Green UMOD in Tubulointerstitial kidney disease Version 3.3 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad Renal superpanel - narrow	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Phenotypes Medullary cystic kidney disease 2 MIM 603860 Familial juvenile hyperuricemic nephropathy 1 MIM 162000
Green UMOD in Cystic kidney disease Level 3: Structural renal and urinary tract disease Level 2: Renal and urinary tract disorders Version 4.24 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Cystic renal disease Renal superpanel - broad Renal superpanel - narrow	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Medullary Cystic Kidney Disease 2 Hyperuricemic nephropathy, familial juvenile 1, 162000
Green UMOD in Unexplained kidney failure in young people Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 1.118 Component of the following Super Panels: Renal superpanel - broad	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Emory Genetics Laboratory Eligibility statement prior genetic testing Other Illumina TruGenome Clinical Sequencing Services Expert Review Radboud University Medical Center, Nijmegen UKGTN Expert list Phenotypes Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886 Hyperuricemic nephropathy, familial juvenile 1 162000 Medullary cystic kidney disease 2 603860
Red UMOD in Primary ciliary disorders Level 3: Respiratory ciliopathies Level 2: Ciliopathies Version 1.42	review	Not set	Sources Emory Genetics Laboratory Phenotypes ciliopathies
Red UMOD in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.56 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Emory Genetics Laboratory
Red UMOD in CAKUT Level 3: Structural renal and urinary tract disease Level 2: Renal and urinary tract disorders Version 1.175 Component of the following Super Panels: Renal superpanel - broad Renal superpanel - narrow	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Uromodulin-associated kidney disease Medullary Cystic Kidney Disease 2 Hyperuricemic nephropathy, familial juvenile 1, 162000
Green UMOD in Unexplained young onset end-stage renal disease Version 3.40 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Phenotypes 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
Green UMOD in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Familial juvenile hyperuricaemic nephropathy (Disorders of purine metabolism) Cystic kidney disease Unexplained kidney failure in young people
Green UMOD in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Cystic kidney disease Unexplained kidney failure in young people Familial juvenile hyperuricaemic nephropathy (Disorders of purine metabolism)
Green UMOD in Renal tubulopathies Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 4.17 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad Renal superpanel - narrow	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Hyperuricemic nephropathy, familial juvenile 1, 162000 Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886 Medullary cystic kidney disease 2, 603860
Red UMOD in Rare multisystem ciliopathy disorders Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 1.170	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red UKGTN Emory Genetics Laboratory Expert list Phenotypes Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel
Green UMOD in Groopman et al 2019 - Genes with diagnostic variants Version 0.8	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert review green Literature Phenotypes Tubulointerstitial disease Hypertensive nephropathy 162000 Congenital or cystic renal disease 603860 Nephropathy of unknown origin Autosomal dominant tubulointerstitial kidney disease, UMOD-associated Glomerulopathy MIM 609886
Red UMOD in Renal ciliopathies Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 3.5 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Cystic renal disease Paediatric disorders Rare multisystem ciliopathy Super panel Renal superpanel - broad Renal superpanel - narrow	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert list Emory Genetics Laboratory UKGTN Phenotypes Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel
Red UMOD in Childhood onset dystonia, chorea or related movement disorder Version 3.75 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH
Green UMOD in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886 Medullary cystic kidney disease 2, 603860 Hyperuricemic nephropathy, familial juvenile 1, 162000