1. Genes and Genomic Entities
  2. COL13A1

COL13A1

collagen type XIII alpha 1 chain
OMIM: 120350, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Amber COL13A1 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
    • Expert Review Amber
    • Literature
    Phenotypes
    • Myasthenic syndrome, congenital, 19, OMIM:616720
    Tags
    • treatable
    • Q1_23_promote_green
    • Q1_23_NHS_review
    Green COL13A1 in Congenital myaesthenic syndrome

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.6
    Latest signed off version: v4.5 (1 May 2024)

    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
    • Eligibility statement prior genetic testing
    • Literature
    Phenotypes
    • Myasthenic syndrome, congenital, 19, OMIM:616720
    Tags
    • treatable
    Green COL13A1 in Fetal anomalies


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

    		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 4.3
    Latest signed off version: v4.0 (1 May 2024)

    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
    Green COL13A1 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Myasthenic syndrome, congenital, 19, 616720
    Green COL13A1 in Congenital muscular dystrophy and congenital myopathy


    Version 0.230

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Myasthenic syndrome, congenital, 19, OMIM:616720
    Tags
    • treatable