PanelApp
  1. Genes and Genomic Entities
  2. RTTN

RTTN

rotatin
OMIM: 610436, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green RTTN in Polymicrogyria and Schizencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.195

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  review Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Brain Malformations Flagship

    Red RTTN in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.389

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Microcephaly, short stature, and polymicrogyria with seizures, MIM#614833

    Green RTTN in Mendeliome


    Version 1.2374

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Microcephaly, short stature, and polymicrogyria with seizures, MIM# 614833
    • microcephalic primordial dwarfism due to RTTN deficiency MONDO:0018764

    Green RTTN in Microcephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.301

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Microcephaly, short stature, and polymicrogyria with seizures, MIM# 614833
    • Microcephalic primordial dwarfism due to RTTN deficiency MONDO:0018764

    Green RTTN in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.119

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Microcephaly, short stature, and polymicrogyria with seizures, MIM# 614833

    Green RTTN in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.540

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

    Green RTTN 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
    • Microcephaly, short stature, and polymicrogyria with seizures, MIM# 614833
    • Microcephalic primordial dwarfism due to RTTN deficiency MONDO:0018764

    Green RTTN 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
    • Polymicrogyria with seizures, 614833 (3)

    Green RTTN in Fetal anomalies


    Version 1.314

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Microcephaly, short stature, and polymicrogyria with seizures, MIM# 614833
    • Microcephalic primordial dwarfism due to RTTN deficiency MONDO:0018764

    Green RTTN in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Microcephaly, short stature, and polymicrogyria with seizures MIM#614833