VPS33B

Green VPS33B in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.24

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 Neuromuscular disorders

Version 5.352
Latest signed off version: v5.43 (4 Mar 2020)

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 2.36
Latest signed off version: v2.2 (13 Feb 2020)

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 1.110
Latest signed off version: v1.21 (20 Aug 2020)

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 1.18
Latest signed off version: v1.3 (15 Oct 2020)

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 1.172

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 1.113

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 3.161
Latest signed off version: v3.2 (13 Feb 2020)

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 2.89
Latest signed off version: v2.2 (2 Mar 2020)

Component of the following Super Panels:

Sources

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

Phenotypes

• vacuolar myopathy
• Arthrogryposis renal dysfunction, and cholestasis 1, 208085

Green VPS33B in Bleeding and platelet disorders

Version 1.43
Latest signed off version: v1.2 (3 Mar 2020)

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 1.169

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 paediatric onset end-stage renal disease

Version 1.37
Latest signed off version: v1.2 (4 Mar 2020)

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 1.542

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 Inborn errors of metabolism

Version 2.263
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

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

Green VPS33B in Fetal anomalies

Version 1.880
Latest signed off version: v1.92 (21 Aug 2020)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1

Green VPS33B in DDG2P

Version 2.76
Latest signed off version: v2.2 (13 Feb 2020)

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 2.62
Latest signed off version: v2.23 (16 Oct 2020)

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

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1651
Latest signed off version: v3.2 (13 Feb 2020)

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 2.77
Latest signed off version: v2.32 (16 Oct 2020)

Component of the following Super Panels:

Sources

• NHS GMS

Phenotypes

• Arthrogryposis, renal dysfunction, and cholestasis 1 #208085

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

Version 1.240
Latest signed off version: v1.137 (5 Aug 2021)

Sources

• Expert Review Red
• London North GLH

Green VPS33B in Severe Paediatric Disorders

Version 1.127

Sources

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

Phenotypes

• Arthrogryposis, renal dysfunction, and cholestasis 1, 208085