VAMP1

vesicle associated membrane protein 1
OMIM: 185880, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green VAMP1 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.416

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Myasthenic syndrome, congenital, 25, MIM# 618323

Green VAMP1 in Mendeliome


Version 1.2302

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Myasthenic syndrome, congenital, 25, MIM# 618323
  • Spastic ataxia 1, autosomal dominant, MIM# 108600
Tags
  • founder

Red VAMP1 in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 0.572

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic ataxia 1, autosomal dominant, MIM# 108600

Red VAMP1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.63

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Spastic ataxia 1, autosomal dominant, OMIM #108600
  • Myasthenic syndrome, congenital, 25, OMIM #618323

Amber VAMP1 in Ataxia - adult onset


Level 2: Neurology and neurodevelopmental disorders
Version 1.18

Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Royal Melbourne Hospital
    Phenotypes
    • Autosomal dominant spastic ataxia 1, 108600
    • Spastic ataxia 1, autosomal dominant, 108600
    Tags
    • founder

    Amber VAMP1 in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.272

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Spastic ataxia 1, autosomal dominant, MIM# 108600
    Tags
    • founder

    Amber VAMP1 in Hereditary Spastic Paraplegia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.11

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Royal Melbourne Hospital
    Phenotypes
    • Spastic ataxia 1, autosomal dominant, 108600
    Tags
    • founder

    Amber VAMP1 in Hereditary Spastic Paraplegia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.86

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Spastic ataxia 1, autosomal dominant, MIM# 108600
    Tags
    • founder

    Green VAMP1 in Congenital Myasthenia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.10

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • presynaptic CMS
    • Myasthenic syndrome, congenital, 25, MIM# 618323

    Red VAMP1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Spastic ataxia

    Green VAMP1 in Fetal anomalies


    Version 1.313

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert list
    • Expert list
    Phenotypes
    • Myasthenic syndrome, congenital, 25, MIM# 618323

    Green VAMP1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category C gene
    • BeginNGS
    Phenotypes
    • Myasthenic syndrome, congenital, 25, MIM# 618323
    Tags
    • treatable
    • neurological