Familial non syndromic congenital heart disease
Gene: MMP21
MMP21 (matrix metallopeptidase 21)
EnsemblGeneIds (GRCh38): ENSG00000154485
EnsemblGeneIds (GRCh37): ENSG00000154485
OMIM: 608416, Gene2Phenotype
MMP21 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000154485
EnsemblGeneIds (GRCh37): ENSG00000154485
OMIM: 608416, Gene2Phenotype
MMP21 is in 6 panels
1 review
Helen Brittain (Genomics England Curator)
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