RAB39B

RAB39B, member RAS oncogene family
OMIM: 300774, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green RAB39B in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.70

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Expert
Phenotypes
  • ?Waisman syndrome
  • early-onset parkinsonism and intellectual disability

Red RAB39B in Autism


Version 0.22

review Not set
Sources
  • Expert Review Red
  • SFARI

Green RAB39B in Structural basal ganglia disorders

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.19

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Waisman syndrome 311510

Red RAB39B in Neurodegenerative disorders - adult onset


Version 2.200
Latest signed off version: v2.178 (5 Aug 2021)

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • early-onset parkinsonism and intellectual disability
  • ?Waisman syndrome

Red RAB39B in Fetal anomalies


Version 1.728
Latest signed off version: v1.92 (21 Aug 2020)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION X-LINKED TYPE 72 (MRX72) +/- PARKINSONS

Green RAB39B in DDG2P


Version 2.49
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MENTAL RETARDATION X-LINKED TYPE 72 (MRX72) +/- PARKINSONS 300271

    Green RAB39B in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1367
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Mental retardation, X-linked 72, 300271
    • Mental Retardation, X-linked
    • MENTAL RETARDATION X-LINKED TYPE 72 (MRX72) +/- PARKINSONS

    Green RAB39B in Adult onset movement disorder


    Version 1.123
    Latest signed off version: v1.121 (5 Aug 2021)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Waisman syndrome, OMIM:311510

    Green RAB39B in Childhood onset dystonia or chorea or related movement disorder


    Version 1.157
    Latest signed off version: v1.137 (5 Aug 2021)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Waisman syndrome 311510

    Green RAB39B in Severe Paediatric Disorders


    Version 1.84

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mental retardation, X-linked 72, 300271
    • Waisman syndrome, 311510