VPS11

VPS11, CORVET/HOPS core subunit
OMIM: 608549, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red VPS11 in COVID-19 research


Level 2: Viral research
Version 1.146

review Unknown
Sources
  • Expert list
  • OMIM
  • Expert Review Red
Amber VPS11 in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.152

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ?Dystonia 32, OMIM:619637
  • dystonia 32, MONDO:0030486
Green VPS11 in White matter disorders and cerebral calcification - narrow panel


Level 2: Neurology
Version 7.15
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Leukodystrophy, hypomyelinating, 12, OMIM:616683
    Green VPS11 in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.186

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leukodystrophy, hypomyelinating, 12, OMIM:616683
    Green VPS11 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.147
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review
    • Expert Review Green
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Leukodystrophy, hypomyelinating, 12 (MIM 616683)
    • Leukodystrophy, hypomyelinating, 12
    Green VPS11 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.304
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    • Expert Review
    • Radboud University Medical Center, Nijmegen
    • Literature
    Phenotypes
    • Leukodystrophy, hypomyelinating, 12, 616683
    • Leukodystrophy, hypomyelinating, 12 (MIM 616683)