VPS33B

VPS33B, late endosome and lysosome associated
OMIM: 608552, Gene2Phenotype

21 panels

Panel Reviews Mode of inheritance Details
21 panels

Green VPS33B in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.20

review BIALLELIC, autosomal or pseudoautosomal
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 5.241
Latest signed off version: v5.43 (4 Mar 2020)

review Unknown
Sources
  • Expert Review Amber
Phenotypes
  • vacuolar myopathy?

Amber VPS33B in Nephrocalcinosis or nephrolithiasis

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 2.24
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Arthrogryposis, renal dysfunction, and cholestasis 1, 208085
    Tags
    • for-review

    Green VPS33B in Cholestasis


    Version 1.88
    Latest signed off version: v1.21 (20 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    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 1.9
    Latest signed off version: v1.3 (15 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    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 1.164

    review BIALLELIC, autosomal or pseudoautosomal
    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 1.97

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review BIALLELIC, autosomal or pseudoautosomal
    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 3.129
    Latest signed off version: v3.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    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 2.59
    Latest signed off version: v2.2 (2 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    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 1.31
    Latest signed off version: v1.2 (3 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    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 1.164

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    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 1.20
    Latest signed off version: v1.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review BIALLELIC, autosomal or pseudoautosomal
    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 1.486

    review BIALLELIC, autosomal or pseudoautosomal
    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 2.187
    Latest signed off version: v2.3 (17 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    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 1.728
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1

    Green VPS33B in DDG2P


    Version 2.49
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 319164

    Amber VPS33B in Renal tubulopathies

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 2.30
    Latest signed off version: v2.23 (16 Oct 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Arthrogryposis, renal dysfunction, and cholestasis 1 #208085
    Tags
    • for-review

    Amber VPS33B in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1367
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    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 2.58
    Latest signed off version: v2.32 (16 Oct 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review Not set
    Sources
    • NHS GMS
    Phenotypes
    • Arthrogryposis, renal dysfunction, and cholestasis 1 #208085

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


    Version 1.157
    Latest signed off version: v1.137 (5 Aug 2021)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green VPS33B in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Arthrogryposis, renal dysfunction, and cholestasis 1, 208085