VAMP2

vesicle associated membrane protein 2
OMIM: 185881, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green VAMP2 in Paroxysmal central nervous system disorders


Level 2: Neurology
Version 4.2
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • London North GLH
  • Expert Review Green
Phenotypes
  • axial hypotonia
  • intellectual disability
  • autistic features
  • central visual impairment
  • hyperkinetic movement disorder
  • epilepsy or electroencephalography abnormalities
Green VAMP2 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • INTELLECTUAL DISABILITY 616579
    Green VAMP2 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.120
    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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review
    • Expert Review Green
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Cortical visual impairment
    • Seizures
    • Stereotypic behavior
    • Generalized hypotonia
    • Intellectual disability
    • Abnormality of movement
    • Global developmental delay
    • Generalized hypotonia, Global developmental delay, Intellectual disability, Autistic behavior, Stereotypic behavior, Seizures, Abnormality of movement, Cortical visual impairment
    • Autistic behavior
    Green VAMP2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Cortical visual impairment
    • Seizures
    • Stereotypic behavior
    • Generalized hypotonia
    • Intellectual disability
    • Abnormality of movement
    • Global developmental delay
    • Generalized hypotonia, Global developmental delay, Intellectual disability, Autistic behavior, Stereotypic behavior, Seizures, Abnormality of movement, Cortical visual impairment
    • Autistic behavior
    Amber VAMP2 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, imprinted status unknown
    Sources
    • Expert Review Amber
    • NHS GMS
    • London North GLH
    Phenotypes
    • Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements, OMIM:618760
    Green VAMP2 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, imprinted status unknown
    Sources
    • Expert Review Green
    • London North GLH
    Phenotypes
    • axial hypotonia intellectual disability autistic features central visual impairment hyperkinetic movement disorder epilepsy or electroencephalography abnormalities