PanelApp (stage)
  1. Genes and Genomic Entities
  2. COL25A1

COL25A1

collagen type XXV alpha 1 chain
OMIM: 610004, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green COL25A1 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.411

Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • arthrogryposis multiplex congenita MONDO:0015168

    Green COL25A1 in Mendeliome


    Version 1.1891

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fibrosis of extraocular muscles, congenital, 5, MIM# 616219
    • arthrogryposis multiplex congenita MONDO:0015168

    Green COL25A1 in Congenital ophthalmoplegia


    Level 2: Ophthalmological disorders
    Version 1.8

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Fibrosis of extraocular muscles, congenital, 5, MIM# 616219

    Green COL25A1 in Fetal anomalies


    Version 1.255

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Arthrogryposis multiplex congenita MONDO:0015168