Genomics England
GMS Panels
Panels
Genes and Entities

ECM1

extracellular matrix protein 1
OMIM: 602201
PanelMode of inheritanceDetails
1 panel
Green
in Rare genetic inflammatory skin disorders
R-numbers: R332
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Urbach-Wiethe disease, OMIM:247100, lipoid proteinosis, MONDO:0009530