1. Genes and Genomic Entities
  2. RABL2A

RABL2A

RAB, member of RAS oncogene family like 2A
OMIM: 605412, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red RABL2A in Neurological ciliopathies


Level 2: Neurology
Version 6.13
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel

    		•  review Unknown
    Sources
    • Literature
    Phenotypes
    • neural tube defects
    Red RABL2A in Skeletal ciliopathies


    Level 2: Musculoskeletal
    Version 6.5
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel

    		•  review Unknown
    Sources
    • Literature
    Phenotypes
    • polydactyly
    • growth retardation