COL13A1

collagen type XIII alpha 1 chain
OMIM: 120350, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green COL13A1 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
    • Expert Review Green
    • Literature
    Phenotypes
    • Myasthenic syndrome, congenital, 19, OMIM:616720
    Tags
    • treatable
    Green COL13A1 in Congenital myaesthenic syndrome


    Level 2: Neurology
    Version 5.7
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Literature
    • Eligibility statement prior genetic testing
    Phenotypes
    • Myasthenic syndrome, congenital, 19, OMIM:616720
    Tags
    • treatable
    Green COL13A1 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 Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Myasthenic syndrome, congenital, 19, OMIM:616720
    • Congenital myasthenic syndrome 19, MONDO:0014745
    Green COL13A1 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Congenital Myasthenic Syndrome Type 19