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Cataracts

Gene: MMP1

Red List (low evidence)

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

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Red List (low evidence)

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

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