RAB39B

RAB39B, member RAS oncogene family
OMIM: 300774, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green RAB39B in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.3

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Early-onset parkinsonism-intellectual disability syndrome MONDO:0010709

    Red RAB39B in Brain Calcification


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.96

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Intellectual developmental disorder, X-linked 72, MIM# 300271

    Green RAB39B in Mendeliome


    Version 1.1891

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Intellectual developmental disorder, X-linked 72 MIM#300271
    • Waisman syndrome MIM#311510

    Green RAB39B in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual developmental disorder, X-linked 72 MIM#300271
    • Waisman syndrome MIM#311510

    Green RAB39B in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Intellectual developmental disorder, X-linked 72, OMIM:300271
    • Waisman syndrome, OMIM:311510

    Green RAB39B in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mental retardation, X-linked 72, 300271 (3)

    Red RAB39B in Fetal anomalies


    Version 1.255

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Intellectual developmental disorder, X-linked 72 MIM#300271
    • Waisman syndrome MIM#311510

    Green RAB39B in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mental retardation, X-linked 72, 300271 (3)