VAMP1

vesicle associated membrane protein 1
OMIM: 185880, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels
Amber VAMP1 in Ataxia and cerebellar anomalies - narrow panel


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    Phenotypes
    • Spastic ataxia 1, autosomal dominant, 108600
    Amber VAMP1 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.332

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Spastic ataxia 1, autosomal dominant, 108600
    Tags
    • watchlist
    Red VAMP1 in Hereditary spastic paraplegia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.311

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Spastic ataxia 1, autosomal dominant, 108600
    Tags
    • founder-effect
    Green VAMP1 in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.1
    Latest signed off version: v6.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • presynaptic CMS
    • Congenital myasthenic syndrome
    Green VAMP1 in Congenital myaesthenic syndrome

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.6
    Latest signed off version: v4.5 (1 May 2024)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Wessex and West Midlands GLH
    • Literature
    Phenotypes
    • Myasthenic syndrome, congenital, 25, OMIM:618323
    Amber VAMP1 in Childhood onset hereditary spastic paraplegia


    Version 5.1
    Latest signed off version: v5.0 (1 May 2024)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Spastic ataxia 1, autosomal dominant, 108600
    Amber VAMP1 in Adult onset hereditary spastic paraplegia


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Yorkshire and North East GLH
    • South West GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Spastic ataxia 1, autosomal dominant, 108600
    Red VAMP1 in Adult onset neurodegenerative disorder


    Version 5.1
    Latest signed off version: v5.0 (1 May 2024)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • London North GLH
    • NHS GMS
    • South West GLH
    Phenotypes
    • Spastic ataxia 1, autosomal dominant, 108600
    Tags
    • watchlist
    • founder-effect
    Green VAMP1 in Fetal anomalies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Myasthenic syndrome, congenital, 25
    Red VAMP1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.11
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Myasthenic syndrome, congenital, 25, 618323
    Amber VAMP1 in Hereditary ataxia with onset in adulthood


    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Hereditary ataxia v1.148
    • Expert Review Amber
    Phenotypes
    • Autosomal dominant spastic ataxia 1, 108600
    • Spastic ataxia 1, autosomal dominant, 108600
    Tags
    • watchlist
    Green VAMP1 in Childhood onset dystonia, chorea or related movement disorder


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Spastic ataxia 1, autosomal dominant, 108600
    Green VAMP1 in Severe Paediatric Disorders


    Version 1.184

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Myasthenic syndrome, congenital, 25, 618323
    • Spastic ataxia 1, autosomal dominant, 108600