COL25A1:Ensemblv90

collagen type XXV alpha 1 chain
OMIM: 610004, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green COL25A1 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 1.1

Component of the following Super Panels:

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

    Green COL25A1 in Mendeliome


    Version 1.3802

    2 reviews 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 1.14

    2 reviews 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 1.482

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

    Green COL25A1 in Arthrogryposis


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

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

    Green COL25A1 in Congenital ophthalmoplegia


    Level 2: Ophthalmological disorders
    Version 2.0

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