MMP21 matrix metallopeptidase 21

Gene info

Synonyms

None

Previous symbol

None

External ID

HGNC: 14357
Entrez Gene: 118856
Ensembl: ENSG00000154485
UCSC: uc001liu.5
OMIM: 608416
UniProtKB: Q8N119

Disease info

Disease

None

CHD Phenotype

  • Heterotaxy

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: Mice homozygous for an ENU-induced mutation exhibit heterotaxia and congenital cardiovascular defects including d-loop transposition of the great arteries, tricupid valve atresia, and ventricular septal defect

MGI ID

2664387

Variant info

Clinvar

MMP21

Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

No variant passing our criteria was found for MMP21.

Selected References

None