BEAN1

brain expressed associated with NEDD4 1
OMIM: 612051, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

No list BEAN1 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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Removed
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Spinocerebellar ataxia 31, 117210
    • autosomal dominant cerebellar ataxia type III
    Tags
    • STR

    Green SCA31 STR in Mendeliome


    Version 1.1902

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 31 MIM#117210

    Green SCA31 STR 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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Spinocerebellar ataxia 31 MIM#117210
    Tags
    • STR

    Green SCA31 STR in Repeat Disorders


    Version 0.167

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 31 MIM#117210
    Tags
    • adult-onset