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

CNTN1

contactin 1
OMIM: 600016, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber CNTN1 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.416

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

Green CNTN1 in Mendeliome


Version 1.2302

2 reviews 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 1.85

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel

    		•  3 reviews 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 1.313

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