Heterotaxy
Gene: MMP21EnsemblGeneIds (GRCh38): ENSG00000154485
EnsemblGeneIds (GRCh37): ENSG00000154485
OMIM: 608416, Gene2Phenotype
MMP21 is in 5 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
More than 10 unrelated families, two mouse and one zebrafish models.Created: 18 Oct 2020, 10:13 a.m. | Last Modified: 18 Oct 2020, 10:13 a.m.
Panel Version: 0.151
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Heterotaxy, visceral, 7, autosomal,MIM# 616749
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Heterotaxy, visceral, 7, autosomal,MIM# 616749
- OMIM
- 608416
- Clinvar variants
- Variants in MMP21
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mmp21 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MMP21 were changed from to Heterotaxy, visceral, 7, autosomal,MIM# 616749
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: MMP21 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: MMP21 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MMP21 was added gene: MMP21 was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MMP21 was set to Unknown