1. Genes and Genomic Entities
  2. VPS16

VPS16

VPS16, CORVET/HOPS core subunit
OMIM: 608550, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green VPS16 in Lysosomal storage disorder


Level 2: Metabolic
Version 3.5
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mucopolysaccharidosis-like syndrome (biallelic)
  • Dystonia Associated with Lysosomal Abnormalities (monoallelic)
  • Dystonia 30, OMIM:619291
Green VPS16 in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.91
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Other
    Phenotypes
    • Mucopolysaccharidosis-like syndrome (biallelic)
    • Dystonia Associated with Lysosomal Abnormalities (monoallelic)
    • Dystonia 30, OMIM:619291
    Green VPS16 in Adult onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 5.3
    Latest signed off version: v5.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Dystonia 30, OMIM:619291
    • Dystonia Associated with Lysosomal Abnormalities
    Green VPS16 in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Dystonia 30, OMIM:619291
    • Dystonia Associated with Lysosomal Abnormalities