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 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 4.1
Latest signed off version: v4.0 (1 May 2024)

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 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel

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