VPS16

VPS16, CORVET/HOPS core subunit
OMIM: 608550, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green VPS16 in Mendeliome


Version 1.4216

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dystonia 30, MIM#619291
  • mucopolysaccharidosis-like disorder, VPS16-related MONDO#0100365

Green VPS16 in Lysosomal Storage Disorder


Level 2: Metabolic conditions
Version 1.27

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • mucopolysaccharidosis-like disorder, VPS16-related MONDO#0100365

    Green VPS16 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.638

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • mucopolysaccharidosis-like disorder, VPS16-related MONDO#0100365

    Green VPS16 in Dystonia and Chorea


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.337

    Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Dystonia 30, MIM#619291