Genomics England
GMS Panels
Panels
Genes and Entities

COL27A1

collagen type XXVII alpha 1 chain
OMIM: 608461
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.48
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Steel Syndrome
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.26
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Steel syndrome, OMIM:615155