VAPB

VAMP associated protein B and C
OMIM: 605704, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber VAPB in Neuromuscular disorders


Version 5.177
Latest signed off version: v5.172 (16 Dec 2021)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Amyotrophic lateral sclerosis 8 608627
  • Spinal muscular atrophy, late-onset, Finkel type 182980

Green VAPB in Neurodegenerative disorders - adult onset


Version 2.57
Latest signed off version: v2.56 (16 Dec 2021)

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, 608627
  • Amyotrophic Lateral Sclerosis, Dominant

Green VAPB in Amyotrophic lateral sclerosis/motor neuron disease

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.34

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 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.64
Latest signed off version: v1.63 (16 Dec 2021)

Component of the following Super Panels:

  • Hypotonic infant
  • 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

    No list VAPB in Hereditary neuropathy NOT PMP22 copy number


    Version 1.28
    Latest signed off version: v1.27 (16 Dec 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    Phenotypes
    • Adult proximal spinal muscular atrophy, autosomal dominant
    • dHMN/dSMA
    • Spinal muscular atrophy, late-onset, Finkel type, MIM# 182980