1. Genes and Genomic Entities
  2. ECM1

ECM1

extracellular matrix protein 1
OMIM: 602201, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green ECM1 in Rare genetic inflammatory skin disorders


Version 3.19
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Urbach-Wiethe disease, OMIM:247100
  • lipoid proteinosis, MONDO:0009530
Green ECM1 in DDG2P


Version 3.88
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • LIPOID PROTEINOSIS OF URBACH AND WIETHE, OMIM:247100