VPS33B

Green VPS33B in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.26

Sources

• Expert Review Green
• Victorian Clinical Genetics Services
• Illumina TruGenome Clinical Sequencing Services
• UKGTN
• Radboud University Medical Center, Nijmegen
• Emory Genetics Laboratory

Phenotypes

• Neonatal and Adult Cholestasis
• Arthrogryposis, renal dysfunction, and cholestasis 1, 208085
• Arthrogryposis, Renal Dysfunction, and Cholestasis 1
• Arthrogryposis, Renal Dysfunction, And Cholestasis 1
• Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
• ARC syndrome
• arthrogryposis-renal-cholestasis syndrome

Amber VPS33B in Other rare neuromuscular disorders

Version 19.202
Latest signed off version: v19.1 (22 Mar 2023)

Sources

• Expert Review Amber

Phenotypes

• vacuolar myopathy?

Green VPS33B in Nephrocalcinosis or nephrolithiasis

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 4.13
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• Literature

Phenotypes

• Arthrogryposis, renal dysfunction, and cholestasis 1, OMIM:208085

Green VPS33B in Cholestasis

Version 3.4
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Green
• Other
• NHS GMS

Phenotypes

• arthrogryposis-renal-cholestasis syndrome
• Arthrogryposis, renal dysfunction, and cholestasis 1, 208085
• Arthrogryposis, Renal Dysfunction, and Cholestasis 1
• Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
• ARC syndrome
• Neonatal and Adult Cholestasis
• Arthrogryposis, Renal Dysfunction, And Cholestasis 1

Green VPS33B in Palmoplantar keratodermas

Version 3.25
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• London North GLH
• NHS GMS
• Expert Review Green

Phenotypes

• Arthrogryposis, renal dysfunction, and cholestasis syndrome

Green VPS33B in Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.177

Sources

• Expert Review Green
• BRIDGE Study Tier 1 Gene

Phenotypes

• ARC syndrome (Arthrogryposis, renal dysfunction, and cholestasis 2)

Green VPS33B in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.119

Component of the following Super Panels:

Sources

• Expert Review Green
• Emory Genetics Laboratory
• UKGTN
• Illumina TruGenome Clinical Sequencing Services
• Radboud University Medical Center, Nijmegen

Phenotypes

• Arthrogryposis, renal dysfunction, and cholestasis 1 208085

Green VPS33B in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.22
Latest signed off version: v5.0 (22 Mar 2023)

Sources

• Expert list
• Expert Review Green
• UKGTN
• Radboud University Medical Center, Nijmegen

Phenotypes

• Arthrogryposis, Renal Dysfunction, And Cholestasis 1
• arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

Red VPS33B in Congenital myopathy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.37
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Red
• NHS GMS
• London South GLH
• Expert Review

Phenotypes

• Arthrogryposis, renal dysfunction, and cholestasis 1, OMIM:208085

Green VPS33B in Bleeding and platelet disorders

Version 3.9
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• North West GLH
• Yorkshire and North East GLH
• London South GLH
• NHS GMS
• Expert Review Green
• Wessex and West Midlands GLH

Phenotypes

• 208085 Arthrogryposis, renal dysfunction, and cholestasis 1

Red VPS33B in CAKUT

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 1.176

Component of the following Super Panels:

Sources

• Expert Review Red
• Radboud University Medical Center, Nijmegen
• Illumina TruGenome Clinical Sequencing Services
• UKGTN

Phenotypes

• Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
• Arthrogryposis, renal dysfunction, and cholestasis 1, 208085
• Arthrogryposis, renal dysfunction, and cholestasis

Green VPS33B in Unexplained young onset end-stage renal disease

Version 3.41
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
• Arthrogryposis, renal dysfunction, and cholestasis 1
• Arthrogryposis, renal dysfunction, and cholestasis 1, 208085
• Arthrogryposis, renal dysfunction, and cholestasis

Green VPS33B in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617

Sources

• Expert Review Green
• Literature

Phenotypes

• ARC Syndrome (Other metabolic disorders)
• Arthrogryposis
• CAKUT
• Inherited bleeding disorders
• Unexplained kidney failure in young people

Green VPS33B 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:

Sources

• Expert Review Green
• London North GLH
• NHS GMS

Phenotypes

• Inherited bleeding disorders
• Unexplained kidney failure in young people
• CAKUT
• ARC Syndrome (Other metabolic disorders)
• Arthrogryposis

Green VPS33B in Fetal anomalies

Version 3.157
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1

Green VPS33B in DDG2P

Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 319164

Green VPS33B 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:

Sources

• Expert Review Green
• Literature

Phenotypes

• Arthrogryposis, renal dysfunction, and cholestasis 1, OMIM:208085

Amber VPS33B in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.536
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Amber
• BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

• Arthrogryposis, renal dysfunction, and cholestasis 1, 208085

Red VPS33B in Proteinuric renal disease

Level 3: Syndromes with prominent renal abnormalities
Level 2: Renal and urinary tract disorders
Version 4.12
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• NHS GMS

Phenotypes

• Arthrogryposis, renal dysfunction, and cholestasis 1 #208085

Red VPS33B in Childhood onset dystonia, chorea or related movement disorder

Version 3.77
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Red
• London North GLH

Green VPS33B in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Arthrogryposis, renal dysfunction, and cholestasis 1, 208085