UMOD

Red UMOD in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.12

Sources

• Emory Genetics Laboratory

Green UMOD in Tubulointerstitial kidney disease

Version 1.11
Latest signed off version: v1.3 (4 Mar 2020)

Component of the following Super Panels:

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 2.26
Latest signed off version: v2.2 (19 Feb 2020)

Component of the following Super Panels:

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 1.96

Component of the following Super Panels:

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 1.32

Sources

• Emory Genetics Laboratory

Phenotypes

• ciliopathies

Red UMOD in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.126
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• Emory Genetics Laboratory

Red UMOD in CAKUT

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 1.164

Component of the following Super Panels:

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 paediatric onset end-stage renal disease

Version 1.20
Latest signed off version: v1.2 (4 Mar 2020)

Component of the following Super Panels:

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 1.486

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 Inborn errors of metabolism

Version 2.180
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

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 2.27
Latest signed off version: v2.23 (16 Oct 2020)

Component of the following Super Panels:

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 1.146

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

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 1.42
Latest signed off version: v1.2 (4 Mar 2020)

Component of the following Super Panels:

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 or chorea or related movement disorder

Version 1.156
Latest signed off version: v1.137 (5 Aug 2021)

Sources

• Expert Review Red
• London North GLH

Green UMOD in Severe Paediatric Disorders

Version 1.84

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