VAPB

VAMP associated protein B and C
OMIM: 605704, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green VAPB 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
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Expert Review Green
Phenotypes
  • Amyotrophic lateral sclerosis 8, OMIM:608627
Green VAPB in Amyotrophic lateral sclerosis/motor neuron disease

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.74

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Amyotrophic Lateral Sclerosis, Dominant
  • Amyotrophic lateral sclerosis 8, 608627
Amber VAPB in Paediatric motor neuronopathies


Level 2: Neurology
Version 3.12
Latest signed off version: v3.9 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Spinal muscular atrophy, late-onset, Finkel type, OMIM:182980
    • Amyotrophic lateral sclerosis 8, OMIM:608627
    Green VAPB in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 7.36
    Latest signed off version: v7.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinal muscular atrophy, late-onset, Finkel type, OMIM:182980
    • Amyotrophic lateral sclerosis 8, OMIM:608627