PanelApp (test)
  1. Genes and Genomic Entities
  2. VWA3B:Ensemblv90

VWA3B:Ensemblv90

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

3 panels

Panel Reviews Mode of inheritance Details
3 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 - adult onset


Level 2: Neurology and neurodevelopmental disorders
Version 1.62

Component of the following Super Panels:

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

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

    Red VWA3B in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.162

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • 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