1. Genes and Genomic Entities
  2. RAB3A

RAB3A

RAB3A, member RAS oncogene family
OMIM: 179490, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green RAB3A in Ataxia and cerebellar anomalies - narrow panel


Level 2: Neurology
Version 8.72
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, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Research
    Phenotypes
    • RAB3A associated cerebellar ataxia
    • pyramidal features
    • neurodevelopmental delay
    Green RAB3A in Hereditary ataxia

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

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Research
    Phenotypes
    • RAB3A associated cerebellar ataxia
    • pyramidal features
    • neurodevelopmental delay
    Amber RAB3A in Intellectual disability


    Level 2: Developmental disorders
    Version 9.325
    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, NOT imprinted
    Sources
    • Expert Review Amber
    • Research
    Phenotypes
    • RAB3A associated cerebellar ataxia
    • pyramidal features
    • neurodevelopmental delay
    Green RAB3A in Hereditary ataxia with onset in adulthood


    Level 2: Neurology
    Version 8.30
    Latest signed off version: v8.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Research
    Phenotypes
    • RAB3A associated cerebellar ataxia
    • pyramidal features
    • neurodevelopmental delay