ARL13B

ADP ribosylation factor like GTPase 13B
OMIM: 608922, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green ARL13B in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.62

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 8, MIM# 612291

Green ARL13B in Joubert syndrome and other neurological ciliopathies


Level 2: Neurology and neurodevelopmental disorders
Version 1.28

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 8, MIM# 612291

Green ARL13B in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 8, MIM# 612291

Green ARL13B in Renal Ciliopathies and Nephronophthisis


Level 2: Renal and urinary tract disorders
Version 1.26

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Cystic Disease_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • KidGen_CilioNephronop v38.1.0
    Phenotypes
    • Joubert syndrome 8, MIM# 612291

    Red ARL13B in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.573

    review Unknown
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Joubert syndrome 8, MIM# 612291

    Green ARL13B in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Joubert syndrome 8, MIM# 612291

    Red ARL13B in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.305

    review Not set
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • Victorian Clinical Genetics Services

    Green ARL13B in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Joubert syndrome 8, MIM# 612291

    Green ARL13B in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 0.219

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Joubert syndrome 8 MIM#612291

    Green ARL13B in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Joubert syndrome 8, 612291 (3)

    Red ARL13B in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Joubert syndrome

    Green ARL13B in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Joubert syndrome 8, 612291

    Green ARL13B in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Joubert syndrome 8, 612291 (3)

    Red ARL13B in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Joubert syndrome

    Green ARL13B in Prepair 500+


    Level 2: Screening
    Version 1.5

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Joubert syndrome 8, 612291 (3)