1. Genes and Genomic Entities
  2. RUBCN

RUBCN

RUN and cysteine rich domain containing beclin 1 interacting protein
OMIM: 613516, Gene2Phenotype

7 panels

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


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 15, OMIM:615705
    Tags
    • founder-effect
    Red RUBCN in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.332

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • UKGTN
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 15, OMIM:615705
    Red RUBCN in Adult onset neurodegenerative disorder


    Version 5.1
    Latest signed off version: v5.0 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Red RUBCN in DDG2P


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • SYNDROMIC MR WITH ATAXIA, DYSARTHRIA AND EPILEPSY
    Red RUBCN in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.6
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 15, OMIM:615705
    Red RUBCN in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.11
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Other
    • Expert Review Red
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 15, OMIM:615705
    Tags
    • founder-effect
    Red RUBCN in Hereditary ataxia with onset in adulthood


    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Red
    • Hereditary ataxia v1.148
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 15, OMIM:615705