1. Genes and Genomic Entities
  2. MMP1

MMP1

matrix metallopeptidase 1
OMIM: 120353, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red MMP1 in Epidermolysis bullosa

Level 3: Skin fragility disorders
Level 2: Dermatological disorders
Version 1.12

review Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • COPD, rate of decline of lung function in, 606963
  • {Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}, 226600
Red MMP1 in Epidermolysis bullosa and congenital skin fragility


Level 2: Dermatology
Version 2.13
Latest signed off version: v2.2 (22 Mar 2023)

review Not set
Sources
  • Expert Review Red
Phenotypes
  • {Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}, 226600
  • COPD, rate of decline of lung function in, 606963
Red MMP1 in Bilateral congenital or childhood onset cataracts


Level 2: Ophthalmology
Version 7.8
Latest signed off version: v7.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • {Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}