PanelApp
  1. Genes and Genomic Entities
  2. VWA3B

VWA3B

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red VWA3B in Mendeliome


Version 1.3802

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

Red VWA3B in Ataxia


Level 2: Neurology and neurodevelopmental disorders
Version 1.162

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

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