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 0.416

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

Green COL25A1 in Mendeliome


Version 1.2302

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 1.313

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