RAB3A

RAB3A, member RAS oncogene family
OMIM: 179490, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green RAB3A in Mendeliome


Version 1.2667

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • autosomal dominant cerebellar ataxia MONDO:0020380
  • neurodevelopmental disorder MONDO:0700092

Green RAB3A in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.176

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • neurodevelopmental disorder MONDO:0700092

Green RAB3A in Ataxia - adult onset


Level 2: Neurology and neurodevelopmental disorders
Version 1.49

Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • autosomal dominant cerebellar ataxia MONDO:0020380

    Green RAB3A in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.38

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • autosomal dominant cerebellar ataxia MONDO:0020380

    Green RAB3A in Hereditary Spastic Paraplegia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.93

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • neurodevelopmental disorder MONDO:0700092