VAMP2

vesicle associated membrane protein 2
OMIM: 185881, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green VAMP2 in Paroxysmal central nervous system disorders


Version 1.44
Latest signed off version: v1.2 (27 Feb 2020)

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

Amber VAMP2 in DDG2P


Version 2.76
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • INTELLECTUAL DISABILITY 616579

    Green VAMP2 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.558
    Latest signed off version: v2.2 (13 Feb 2020)

    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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1651
    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 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 movement disorder


    Version 1.170
    Latest signed off version: v1.121 (5 Aug 2021)

    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 or chorea or related movement disorder


    Version 1.240
    Latest signed off version: v1.137 (5 Aug 2021)

    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

    Green VAMP2 in Severe Paediatric Disorders


    Version 1.127

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Stereotypic behavior
    • Global developmental delay
    • Generalized hypotonia
    • Autistic behavior
    • Abnormality of movement
    • Seizures
    • Cortical visual impairment
    • Intellectual disability
    • Generalized hypotonia, Global developmental delay, Intellectual disability, Autistic behavior, Stereotypic behavior, Seizures, Abnormality of movement, Cortical visual impairment