Genomics England
GMS Panels
Panels
Genes and Entities

COL25A1

collagen type XXV alpha 1 chain
OMIM: 610004
PanelMode of inheritanceDetails
2 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis multiplex congenita with or without an ocular congenital cranial dysinnervation disorder
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5 616219