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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

Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)

Green List (high evidence)

Heterotaxy syndrome (HTX) is caused by aberrant left–right patterning early in embryonic development, which results in abnormal positioning and morphology of the thoracic and abdominal organs.

HGNC approved symbol/name: MMP21
Is the phenotype(s) severe and onset <18yo? Y / N If N then comment
Known technical challenges?N
Created: 30 Dec 2024, 4:40 a.m. | Last Modified: 30 Dec 2024, 4:40 a.m.
Panel Version: 1.978

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Heterotaxy, visceral, 7, autosomal MIM#616749; MONDO:0014762

Publications

Created: 30 Dec 2024, 4:40 a.m.
Last Modified: 30 Dec 2024, 4:40 a.m.
Panel version: 1.978

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Heterotaxy, visceral, 7, autosomal MIM#616749
  • MONDO:0014762
OMIM
608416
Clinvar variants
Variants in MMP21
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jan 2025, 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).

17 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MMP21 were changed from Heterotaxy, visceral, 7, autosomal, 616749 (3), Autosomal recessive to Heterotaxy, visceral, 7, autosomal MIM#616749; MONDO:0014762

17 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MMP21 were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MMP21 was added gene: MMP21 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MMP21 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMP21 were set to Heterotaxy, visceral, 7, autosomal, 616749 (3), Autosomal recessive