1. Genes and Genomic Entities
  2. BEAN1

BEAN1

brain expressed associated with NEDD4 1
OMIM: 612051, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red BEAN1 in Ataxia and cerebellar anomalies - narrow panel


Level 2: Neurology
Version 8.63
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    Phenotypes
    • Spinocerebellar ataxia 31 117210
    Red BEAN1 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.344

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Literature
    Phenotypes
    • Spinocerebellar ataxia 31 117210
    Tags
    • structural-variant
    • currently-ngs-unreportable
    • nucleotide-repeat-expansion
    Red BEAN1 in Adult onset neurodegenerative disorder


    Level 2: Neurology
    Version 8.11
    Latest signed off version: v8.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Yorkshire and North East GLH
    • Expert Review Red
    Phenotypes
    • Spinocerebellar ataxia 31 117210
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    • structural-variant
    Red BEAN1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Spinocerebellar ataxia 31 117210
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    • structural-variant
    Red BEAN1 in Hereditary ataxia with onset in adulthood


    Level 2: Neurology
    Version 8.23
    Latest signed off version: v8.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Red
    • Hereditary ataxia v1.148
    Phenotypes
    • Spinocerebellar ataxia 31, 117210
    • Spinocerebellar ataxia 31 117210
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    • structural-variant
    Red BEAN1_TGGAA STR in Hereditary ataxia with onset in adulthood


    Level 2: Neurology
    Version 8.23
    Latest signed off version: v8.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Literature
    Phenotypes
    • Spinocerebellar ataxia 31, OMIM:117210
    • spinocerebellar ataxia type 31, MONDO:0007296
    Tags
    • STR
    • NGS Not Validated