C1orf194:Ensemblv90

chromosome 1 open reading frame 194
ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber C1orf194 in Mendeliome


Version 1.3802

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Charcot-Marie-Tooth disease, intermediate or demyelinating, MONDO:0015626, C1orf194-related

Amber C1orf194 in Hereditary Neuropathy_CMT - isolated


Level 2: Neurology and neurodevelopmental disorders
Version 1.68

Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • Charcot-Marie-Tooth disease, intermediate or demyelinating

    Amber C1orf194 in Hereditary Neuropathy_CMT - isolated


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Literature
    • Expert Review Amber
    Phenotypes
    • Charcot-Marie-Tooth disease, intermediate or demyelinating