VAMP2

vesicle associated membrane protein 2
OMIM: 185881, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green VAMP2 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 618760
  • Intellectual disability
  • Autism

Green VAMP2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 618760
    • Cortical visual impairment
    • Seizures
    • Stereotypic behaviour
    • Generalized hypotonia
    • Intellectual disability

    Green VAMP2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 618760
    • Cortical visual impairment
    • Seizures
    • Stereotypic behaviour
    • Generalized hypotonia
    • Intellectual disability

    Green VAMP2 in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.235

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 618760
    • Dystonia
    • Cortical visual impairment
    • Seizures
    • Stereotypic behaviour
    • Generalized hypotonia
    • Intellectual disability