PanelApp (test)
  1. Genes and Genomic Entities
  2. CNTN1

CNTN1

contactin 1
OMIM: 600016, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber CNTN1 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.411

Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Congenital myopathy 12, OMIM #612540

    Green CNTN1 in Mendeliome


    Version 1.1902

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Compton-North congenital myopathy MONDO:0012929
    • fetal akinesia deformation sequence MONDO:0008824

    Amber CNTN1 in Muscular dystrophy and myopathy_Paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Other
    • Expert Review Amber
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Congenital Myopathy 12, Compton-North myopathy (MONDO:0012929
    • MIM#612540)

    Amber CNTN1 in Fetal anomalies


    Version 1.255

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    Phenotypes
    • Myopathy, congenital, Compton-North, OMIM:612540