VAPB

VAMP associated protein B and C
OMIM: 605704, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red VAPB in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Expert Review Red
Phenotypes
  • Amyotrophic lateral sclerosis 8 MIM#608627
  • Spinal muscular atrophy, late-onset, Finkel type MIM#182980

Green VAPB in Motor Neurone Disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Expert Review Green
Phenotypes
  • Spinal muscular atrophy, late-onset, Finkel type (MIM# 182980)
  • Amyotrophic lateral sclerosis 8
Tags
  • founder

Green VAPB in Incidentalome


Version 1.0

2 reviews Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Red

Green VAPB in Hereditary Neuropathy_CMT - isolated


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Adult proximal spinal muscular atrophy, autosomal dominant
  • dHMN/dSMA
  • Spinal muscular atrophy, late-onset, Finkel type, MIM# 182980