ARL3

ADP ribosylation factor like GTPase 3
OMIM: 604695, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green ARL3 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Joubert syndrome 35, OMIM:618161
Green ARL3 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

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 2: Ophthalmology
    Version 8.86
    Latest signed off version: v8.0 (30 Apr 2025)

    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


    Level 2: Ophthalmology
    Version 5.11
    Latest signed off version: v5.0 (30 Apr 2025)

    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 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Joubert syndrome 35, OMIM:61816
    Tags
    • watchlist