Epidermolysis bullosa and congenital skin fragility
Gene: MMP1

MMP1 (matrix metallopeptidase 1)
EnsemblGeneIds (GRCh38): ENSG00000196611
EnsemblGeneIds (GRCh37): ENSG00000196611
OMIM: 120353, Gene2Phenotype
MMP1 is in 3 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Currently there is not enough evidence to support this gene is involved in EB. PMID:24899116
Created: 24 Apr 2017, 3:02 p.m.

Created: 24 Apr 2017, 3 p.m.

Panel version: Imported from Epidermolysis bullosa panel version 0.69

John McGrath (King's College London)

Red List (low evidence)

This is not an EB gene - there is a functional polymorphism in the promoter than may modify phenotypic severity in dystrophic EB but the data are limited.
Created: 19 Nov 2015, 3:43 p.m.

Created: 19 Nov 2015, 3:43 p.m.

Panel version: Imported from Epidermolysis bullosa panel version 0

Details

Sources

Expert Review Red

Phenotypes

{Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}, 226600
COPD, rate of decline of lung function in, 606963

OMIM

120353

Clinvar variants

Variants in MMP1

Penetrance

None

Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: MMP1 was added gene: MMP1 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Red Mode of inheritance for gene: MMP1 was set to Phenotypes for gene: MMP1 were set to {Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}, 226600; COPD, rate of decline of lung function in, 606963

Epidermolysis bullosa and congenital skin fragility Gene: MMP1