1. Genes and Genomic Entities
  2. CNTN1

CNTN1

contactin 1
OMIM: 600016, Gene2Phenotype

3 panels

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

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.1
Latest signed off version: v6.0 (1 May 2024)

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 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.38
Latest signed off version: v4.37 (1 May 2024)

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


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

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