Heterotaxy

Gene: MMP21

Green List (high evidence)

MMP21 (matrix metallopeptidase 21)
EnsemblGeneIds (GRCh38): ENSG00000154485
EnsemblGeneIds (GRCh37): ENSG00000154485
OMIM: 608416, Gene2Phenotype
MMP21 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

18 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mmp21 has been classified as Green List (High Evidence).

18 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MMP21 were changed from to Heterotaxy, visceral, 7, autosomal,MIM# 616749

18 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MMP21 were set to

18 Oct 2020, Gel status: 3

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

17 Nov 2019, Gel status: 3

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