1. Genes and Genomic Entities
  2. CTBP1

CTBP1

C-terminal binding protein 1
OMIM: 602618, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green CTBP1 in Ataxia and cerebellar anomalies - narrow panel


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

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 4.3
    Latest signed off version: v4.0 (1 May 2024)

    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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.11
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • 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 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 6.4
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review Not set
    Sources
    • Expert list
    Phenotypes
    • Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 617915
    Green CTBP1 in Severe Paediatric Disorders


    Version 1.184

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915