RUBCN

rubicon autophagy regulator
OMIM: 613516, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green RUBCN in Mendeliome


Version 2.0

2 reviews 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 2.0

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

Green RUBCN in Ataxia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews 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