PanelApp
  1. Genes and Genomic Entities
  2. VWA3B

VWA3B

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green VWA3B in Mendeliome


Version 1.4592

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 22 MIM#616948

Green VWA3B in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.708

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 22 MIM#616948

Green VWA3B in Ataxia


Level 2: Neurology and neurodevelopmental disorders
Version 1.195

Component of the following Super Panels:

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

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • GeneReviews
    • Royal Melbourne Hospital
    • Royal Melbourne Hospital
    • GeneReviews
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 22 MIM#616948