CHCHD2:Ensemblv90

coiled-coil-helix-coiled-coil-helix domain containing 2
OMIM: 616244, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green CHCHD2 in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.44

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Parkinson disease 22, autosomal dominant MIM#616710

    Green CHCHD2 in Incidentalome


    Version 0.370

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Parkinson disease 22, autosomal dominant MIM#616710
    Tags
    • adult onset neurodegenerative

    Green CHCHD2 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.1299

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Parkinson disease 22, autosomal dominant MIM#616710

    Green CHCHD2 in Early-onset Parkinson disease


    Level 2: Neurology and neurodevelopmental disorders
    Version 3.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Parkinson disease 22, autosomal dominant MIM#616710

    Green CHCHD2 in Incidentalome


    Version 1.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Parkinson disease 22, autosomal dominant MIM#616710
    Tags
    • adult onset neurodegenerative