PanelApp (test)
  1. Genes and Genomic Entities
  2. RUBCN

RUBCN

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green RUBCN in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Royal Melbourne Hospital Clinical Genetics Department
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 15, MIM#615705

Red RUBCN in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 15, MIM#615705

Green RUBCN in Ataxia - paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.26

Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    • Royal Melbourne Hospital Clinical Genetics Department
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 15, MIM#615705