BEAN1

brain expressed associated with NEDD4 1
OMIM: 612051, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green BEAN1_SCA31_TGGAA STR in Mendeliome


Version 1.3802

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

Green BEAN1_SCA31_TGGAA STR in Ataxia


Level 2: Neurology and neurodevelopmental disorders
Version 1.162

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert List
    Phenotypes
    • Spinocerebellar ataxia 31 MIM#117210

    Green BEAN1_SCA31_TGGAA STR in Repeat Disorders


    Version 0.269

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