Genomics England
GMS Panels
Panels
Genes and Entities

COL25A1

collagen type XXV alpha 1 chain
OMIM: 610004
PanelMode of inheritanceDetails
4 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 8.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis multiplex congenita with or without an ocular congenital cranial dysinnervation disorder
Green
in Congenital fibrosis of the extraocular muscles
R-numbers: R46
Signed-off version 1.18
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fibrosis of extraocular muscles, congenital, 5, OMIM:616219
Green
in Congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R81
Signed-off version 5.15
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 5.48
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5 616219