1. Genes and Genomic Entities
  2. TBC1D2B

TBC1D2B

TBC1 domain family member 2B
Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green TBC1D2B in DDG2P


Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • TBC1D2B-related neurodevelopmental disorder
    Green TBC1D2B in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.61
    Latest signed off version: v9.56 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with seizures and gingival overgrowth, OMIM:619323
    • neurodevelopmental disorder with seizures and gingival overgrowth, MONDO:0859148
    Green TBC1D2B in Intellectual disability


    Level 2: Developmental disorders
    Version 11.7
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with seizures and gingival overgrowth, OMIM:619323
    • neurodevelopmental disorder with seizures and gingival overgrowth, MONDO:0859148