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 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

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

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.193
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • 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
    Tags
    • gene-checked
    Amber TBC1D2B in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with seizures and gingival overgrowth, OMIM:619323
    • neurodevelopmental disorder with seizures and gingival overgrowth, MONDO:0859148
    Tags
    • gene-checked
    • Q2_24_promote_green
    • Q2_24_NHS_review