CAMTA1

calmodulin binding transcription activator 1
OMIM: 611501, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green CAMTA1 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.356

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cerebellar ataxia, nonprogressive, with mental retardation, MIM# 614756
Tags
  • SV/CNV

Green CAMTA1 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD)
Tags
  • SV/CNV

Red CAMTA1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Cerebellar dysfunction with variable cognitive and behavioral abnormalities MIM#614756

    Red CAMTA1 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.556

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD)

    Green CAMTA1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD)
    Tags
    • SV/CNV

    Green CAMTA1 in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.26

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cerebellarataxia, nonprogressive, with mental retardation, 614756
    • Cerebellar ataxia with mental retardation, 614756

    Red CAMTA1 in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD)