1. Genes and Genomic Entities
  2. COL25A1

COL25A1

collagen type XXV alpha 1 chain
OMIM: 610004, Gene2Phenotype

6 panels

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


Version 1.16
Latest signed off version: v1.2 (3 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Wessex and West Midlands GLH
  • Literature
Phenotypes
  • Fibrosis of extraocular muscles, congenital, 5, OMIM:616219
Tags
  • Q1_23_promote_green
Green COL25A1 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.3
Latest signed off version: v6.0 (1 May 2024)

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
Amber COL25A1 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
    • Research
    • Expert Review
    • Literature
    • Expert list
    Phenotypes
    • Arthrogryposis multiplex congenita with or without ocular congenital cranial dysinnervation disorder
    Tags
    • Q1_23_promote_green
    • Q1_23_NHS_review
    Amber COL25A1 in Fetal anomalies


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

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5
    Green COL25A1 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
    • FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5 616219
    Red COL25A1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.12
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review Not set
    Sources
    • Victorian Clinical Genetics Services