ROGDI

rogdi homolog
OMIM: 614574, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Red ROGDI in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.356

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Kohlschutter-Tonz syndrome, MIM#226750

Green ROGDI in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Kohlschutter-Tonz syndrome, MIM# 226750

Green ROGDI in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

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
    • Kohlschutter-Tonz syndrome, MIM# 226750

    Green ROGDI in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Kohlschutter-Tonz syndrome, MIM# 226750

    Green ROGDI 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
    • Kohlschutter-Tonz syndrome, 226750 (3)

    Green ROGDI in Amelogenesis imperfecta


    Level 2: Skeletal disorders
    Version 1.10

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Kohlschutter-Tonz syndrome MIM #226750
    • Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth)

    Green ROGDI in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Kohlschutter-Tonz syndrome, MIM# 226750

    Green ROGDI in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Kohlschutter-Tonz syndrome, 226750 (3)