PanelApp (stage)
  1. Genes and Genomic Entities
  2. VWA3B

VWA3B

von Willebrand factor A domain containing 3B
OMIM: 614884, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red VWA3B in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 22 MIM#616948

Red VWA3B in Ataxia - adult onset


Level 2: Neurology and neurodevelopmental disorders
Version 1.16

Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Royal Melbourne Hospital
    • GeneReviews
    Phenotypes
    • ?Spinocerebellar ataxia, autosomal recessive 22