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 - narrow panel


Version 2.6
Signed off v.2.2 on 2 Mar 2020

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 Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.24
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - 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

    Red CTBP1 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.5
    Signed off v.2.4 on 17 Feb 2020

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review Not set
    Sources
    • Expert list
    Phenotypes
    • Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 617915

    Green CTBP1 in Severe Paediatric Disorders


    Version 1.1

    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