ARL3

ADP ribosylation factor like GTPase 3
OMIM: 604695, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green ARL3 in DDG2P


Version 4.5
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • JOUBERT SYNDROME, 614615
    Green ARL3 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 5.11
    Latest signed off version: v5.0 (1 May 2024)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • RetNet
    Phenotypes
    • Joubert syndrome 35, OMIM:61816
    • cone-rod dystrophy, MONDO:0015993
    • Retinitis pigmentosa 83, OMIM:618173
    Green ARL3 in Ophthalmological ciliopathies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Joubert syndrome 35, OMIM:61816
    • cone-rod dystrophy, MONDO:0015993
    • Retinitis pigmentosa 83, OMIM:618173
    Amber ARL3 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Joubert syndrome 35, OMIM:61816
    Tags
    • watchlist