CNTN1

contactin 1
OMIM: 600016, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber CNTN1 in Arthrogryposis


Level 2: Neurology
Version 9.24
Latest signed off version: v9.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Myopathy, congenital, Compton-North, OMIM:612540
Amber CNTN1 in Congenital myopathy


Level 2: Neurology
Version 6.45
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London South GLH
    • Expert Review Amber
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Myopathy, congenital, Compton-North, OMIM:612540
    Tags
    • watchlist
    Amber CNTN1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Myopathy, congenital, Compton-North, OMIM:612540