1. Genes and Genomic Entities
  2. CTBP1

CTBP1

C-terminal binding protein 1
OMIM: 602618, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green CTBP1 in Ataxia and cerebellar anomalies - childhood onset


Level 2: Neurology
Version 9.26
Latest signed off version: v9.22 (12 Aug 2026)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies, childhood onset

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915
    Tags
    • missense
    Green CTBP1 in DDG2P


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

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CTBP1-related developmental disorder (monoallelic)
    Green CTBP1 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.13
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915
    Tags
    • missense
    Red CTBP1 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 10.19
    Latest signed off version: v10.18 (12 Aug 2026)

    Component of the following Super Panels:

  • Leukodystrophy, childhood onset

    		•  review Not set
    Sources
    • Expert list
    Phenotypes
    • Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 617915