Familial non syndromic congenital heart disease

Gene: MMP21

Green List (high evidence)

MMP21 (matrix metallopeptidase 21)
EnsemblGeneIds (GRCh38): ENSG00000154485
EnsemblGeneIds (GRCh37): ENSG00000154485
OMIM: 608416, Gene2Phenotype
MMP21 is in 6 panels

1 review

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Sufficient evidence for causation of heterotaxy phenotype.
Created: 4 Jul 2017, 7:42 a.m.
Sufficient cases (9 in listed PMID) of heterotaxy / cardiac laterality defects.
Created: 4 Jul 2017, 7:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Heterotaxy,visceral,7,autosomal, 616749

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Heterotaxy,visceral,7,autosomal, 616749
OMIM
608416
Clinvar variants
Variants in MMP21
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

4 Jul 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 Jul 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 Jul 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

MMP21 was created by helen.brittain

4 Jul 2017, Gel status: 1

Added New Source

Helen Brittain (Genomics England Curator)

MMP21 was added to Familial non syndromic congenital heart diseasepanel. Sources: Radboud University Medical Center, Nijmegen