PanelApp (test)
  1. Genes and Genomic Entities
  2. COL13A1

COL13A1

collagen type XIII alpha 1 chain
OMIM: 120350, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green COL13A1 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Myasthenic syndrome, congenital, 19 (OMIM #616720)
Tags
  • treatable

Green COL13A1 in Congenital Myasthenia


Level 2: Neurology and neurodevelopmental disorders
Version 1.10

Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Myasthenic syndrome, congenital, 19, 616720
    Tags
    • treatable

    Green COL13A1 in Fetal anomalies


    Version 1.255

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Myasthenic syndrome, congenital, 19, OMIM:616720
    • Congenital myasthenic syndrome 19, MONDO:0014745

    Green COL13A1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BeginNGS
    Phenotypes
    • Myasthenic syndrome, congenital, 19, MIM# 616720
    Tags
    • treatable
    • neurological