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 1.6

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


Version 1.48
Latest signed off version: v1.3 (15 Oct 2020)

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 Cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.67
Latest signed off version: v2.2 (19 Feb 2020)

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