Bilateral congenital or childhood onset cataracts
Gene: MMP1
MMP1 (matrix metallopeptidase 1)
EnsemblGeneIds (GRCh38): ENSG00000196611
EnsemblGeneIds (GRCh37): ENSG00000196611
OMIM: 120353, Gene2Phenotype
MMP1 is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000196611
EnsemblGeneIds (GRCh37): ENSG00000196611
OMIM: 120353, Gene2Phenotype
MMP1 is in 3 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
Ellen McDonagh (Genomics England Curator)
Not on the Manchester congenital cataracts gene panel. Not associated with a disease in G2P. Seems to be a modifier gene for Epidermolysis bullosa dystrophica in OMIM: {Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}, which includes cataract phenotype.Created: 29 Apr 2016, 12:40 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
{Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- UKGTN
- Phenotypes
-
- {Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}
- OMIM
- 120353
- Clinvar variants
- Variants in MMP1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
2 Jun 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
2 Jun 2016, Gel status: 1
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MMP1 were set to {Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}
2 Jun 2016, Gel status: 1
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for MMP1 was changed to BIALLELIC, autosomal or pseudoautosomal
28 Apr 2015, Gel status: 1
Added New Source
GEL ()MMP1 was added to Cataractspanel. Sources: UKGTN