VAMP1

vesicle associated membrane protein 1
OMIM: 185880, Gene2Phenotype

12 panels

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


Level 2: Neurology
Version 8.63
Latest signed off version: v8.0 (30 Apr 2025)

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 1.344

    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 1.316

    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 2: Neurology
    Version 9.24
    Latest signed off version: v9.0 (30 Apr 2025)

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


    Level 2: Neurology
    Version 5.7
    Latest signed off version: v5.0 (30 Apr 2025)

    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


    Level 2: Neurology
    Version 8.30
    Latest signed off version: v8.0 (30 Apr 2025)

    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


    Level 2: Neurology
    Version 6.7
    Latest signed off version: v6.0 (30 Apr 2025)

    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


    Level 2: Neurology
    Version 8.11
    Latest signed off version: v8.0 (30 Apr 2025)

    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


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

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


    Level 2: Neurology
    Version 8.23
    Latest signed off version: v8.0 (30 Apr 2025)

    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


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

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