Genomics England
GMS Panels
Panels
Genes and Entities
COL27A1
collagen type XXVII alpha 1 chain
OMIM:
608461
See this entity in PanelApp
Panel
Mode of inheritance
Details
Filter panels
1 panel
Green
in
DDG2P
Component of the following Super Panels:
- Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Steel Syndrome