COL25A1

collagen type XXV alpha 1 chain
OMIM: 610004, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green COL25A1 in Congenital fibrosis of the extraocular muscles


Level 2: Ophthalmology
Version 2.3
Latest signed off version: v2.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
  • Literature
Phenotypes
  • Fibrosis of extraocular muscles, congenital, 5, OMIM:616219
Green COL25A1 in Arthrogryposis


Level 2: Neurology
Version 9.31
Latest signed off version: v9.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Arthrogryposis multiplex congenita with or without an ocular congenital cranial dysinnervation disorder
Green COL25A1 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
    • Research
    • Expert Review
    • Literature
    • Expert list
    Phenotypes
    • Arthrogryposis multiplex congenita with or without ocular congenital cranial dysinnervation disorder
    Green COL25A1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.181
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Arthrogryposis multiplex congenita, MONDO:0015168
    Green COL25A1 in DDG2P


    Version 6.447
    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
    • FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5 616219
    Red COL25A1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.345
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review Not set
    Sources
    • Victorian Clinical Genetics Services