Genomics England
GMS Panels
Panels
Genes and Entities

COL25A1

collagen type XXV alpha 1 chain
OMIM: 610004
PanelMode of inheritanceDetails
3 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 6.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis multiplex congenita with or without an ocular congenital cranial dysinnervation disorder
Green
in Congenital muscular dystrophy and congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R432
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis multiplex congenita with or without ocular congenital cranial dysinnervation disorder
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5 616219