PanelApp
  1. Genes and Genomic Entities
  2. ISCA-37436-Gain

ISCA-37436-Gain

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green ISCA-37436-Gain Region in Hereditary Neuropathy


Level 2: Neurology and neurodevelopmental disorders
Version 1.190

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert list
    • Expert Review Green
    • Expert list
    • Expert list
    Phenotypes
    • Charcot-Marie-Tooth disease type 1A, MIM#118220

    Green ISCA-37436-Gain Region in Common deletion and duplication syndromes


    Version 0.158

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Charcot-Marie-Tooth disease type 1A, MIM#118220