ARL3:Ensemblv90

ADP ribosylation factor like GTPase 3
OMIM: 604695, ClinGen, DECIPHER

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green ARL3 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.96

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome 35 MIM#618161

Green ARL3 in Joubert syndrome and other neurological ciliopathies


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome 35 MIM#618161

Green ARL3 in Mendeliome


Version 1.3802

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Joubert syndrome 35 MIM#618161
  • Retinitis pigmentosa 83 MIM#618173

Amber ARL3 in Retinitis pigmentosa


Level 2: Ophthalmological disorders
Version 0.225

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel
  • 1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Amber
    • Expert Review Amber
    • Royal Melbourne Hospital
    Phenotypes
    • Retinitis pigmentosa 83
    • Joubert syndrome 35

    Amber ARL3 in Retinitis pigmentosa_Autosomal Dominant


    Level 2: Ophthalmological disorders
    Version 0.82

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • 1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Royal Melbourne Hospital
    Phenotypes
    • Retinitis pigmentosa 83
    • Joubert syndrome 35

    Green ARL3 in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 0.235

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Joubert syndrome 35 MIM#618161

    Green ARL3 in Fetal anomalies


    Version 1.482

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Joubert syndrome 35- MIM#618161

    Green ARL3 in Ciliopathies


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Joubert syndrome 35 MIM#618161

    Green ARL3 in Joubert syndrome and other neurological ciliopathies


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Joubert syndrome 35 MIM#618161

    Amber ARL3 in Retinitis pigmentosa


    Level 2: Ophthalmological disorders
    Version 1.0

    1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Amber
    • Expert Review Amber
    • Royal Melbourne Hospital
    Phenotypes
    • Retinitis pigmentosa 83
    • Joubert syndrome 35

    Amber ARL3 in Retinitis pigmentosa_Autosomal Dominant


    Level 2: Ophthalmological disorders
    Version 1.0

    1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Amber
    Phenotypes
    • Retinitis pigmentosa 83
    • Joubert syndrome 35

    Green ARL3 in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 1.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Joubert syndrome 35 MIM#618161

    Green ARL3 in Fetal anomalies


    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Joubert syndrome 35- MIM#618161