TBC1D2B

TBC1 domain family member 2B
Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green TBC1D2B in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Neurodevelopmental disorder with seizures and gingival overgrowth (NEDSGO), MIM#619323
  • Global developmental delay
  • Intellectual disability
  • Seizures
  • Gingival overgrowth
  • Behavioral abnormality
  • Abnormality of the mandible
  • Abnormality of brain morphology
  • Abnormality of the eye
  • Hearing abnormality

Green TBC1D2B 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
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with seizures and gingival overgrowth (NEDSGO), MIM#619323
    • Global developmental delay
    • Intellectual disability
    • Seizures
    • Gingival overgrowth
    • Behavioral abnormality
    • Abnormality of the mandible
    • Abnormality of brain morphology
    • Abnormality of the eye
    • Hearing abnormality

    Green TBC1D2B 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
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with seizures and gingival overgrowth (NEDSGO), MIM#619323
    • Global developmental delay
    • Intellectual disability
    • Seizures
    • Gingival overgrowth
    • Behavioral abnormality
    • Abnormality of the mandible
    • Abnormality of brain morphology
    • Abnormality of the eye
    • Hearing abnormality