C5orf42

chromosome 5 open reading frame 42
OMIM: 614571, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green C5orf42 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
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 17, MIM# 614615
Tags
  • new gene name

Green C5orf42 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 17, MIM# 614615
  • MONDO:0013824
  • Orofaciodigital syndrome VI, MIM# 277170
Tags
  • new gene name

Green C5orf42 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 17, MIM# 614615
  • Orofaciodigital syndrome VI, MIM# 277170
Tags
  • new gene name

Green C5orf42 in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.281

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Joubert syndrome 17, MIM# 614615
    • MONDO:0013824
    • Orofaciodigital syndrome VI, MIM# 277170
    Tags
    • new gene name

    Red C5orf42 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 Red
    • KidGen_CilioNephronop v38.1.0
    Phenotypes
    • Joubert syndrome 17, MIM#614615
    • Orofaciodigital syndrome VI, MIM# 277170

    Green C5orf42 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.540

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Red C5orf42 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.573

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Joubert syndrome 17, MIM# 614615
    • MONDO:0013824
    • Orofaciodigital syndrome VI, MIM# 277170

    Green C5orf42 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 17, MIM# 614615
    • MONDO:0013824
    • Orofaciodigital syndrome VI, MIM# 277170
    Tags
    • new gene name

    Red C5orf42 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 C5orf42 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 17, MIM# 614615

    Green C5orf42 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 17, 614615 (3)
    Tags
    • new gene name

    Green C5orf42 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.260

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • OFD6
    • OROFACIODIGITAL SYNDROME VI

    Green C5orf42 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 17, MIM# 614615
    • MONDO:0013824
    • Orofaciodigital syndrome VI, MIM# 277170
    Tags
    • new gene name

    Green C5orf42 in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Joubert syndrome 17, MIM# 614615
    • Orofaciodigital syndrome VI, MIM# 277170
    Tags
    • new gene name

    Green C5orf42 in Prepair 500+


    Level 2: Screening
    Version 1.5

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Joubert syndrome 17, 614615 (3)