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


Level 2: Dermatology
Version 4.26
Latest signed off version: v4.25 (12 Aug 2026)

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 8.1
Latest signed off version: v8.0 (12 Aug 2026)

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