Genomics England
GMS Panels
Panels
Genes and Entities

ECM1

extracellular matrix protein 1
OMIM: 602201
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LIPOID PROTEINOSIS OF URBACH AND WIETHE, OMIM:247100
Green
in Rare genetic inflammatory skin disorders
R-numbers: R332
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Urbach-Wiethe disease, OMIM:247100, lipoid proteinosis, MONDO:0009530