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Fetal anomalies

Gene: MMP15

Amber List (moderate evidence)
MMP15 (matrix metallopeptidase 15)
EnsemblGeneIds (GRCh38): ENSG00000102996
EnsemblGeneIds (GRCh37): ENSG00000102996
OMIM: 602261, Gene2Phenotype
MMP15 is in 3 panels

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Samantha Doyle (The National Maternity Hospital)

I don't know

Not associated with a phenotype on omim or Gene2phenotype. PMID: 33875846 homozygous case with co-segregation in affected sibling presenting with dysmorphic features, congenital heart disease and jaundice. PMID: 34988996- 2 siblings with biallelic frameshift variant presenting with Congenital heart disease, choleastasis, dysmorphic features.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cholestasis; congenital heart disease

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Dmitrijs Rots (RadboudUMC). This gene is not associated with a phenotype in OMIM or Gene2Phenotype.

PMID: 33875846 describes 3 patients from 2 families with biallelic variants in MMP15 (one is Pro353fs and other is Gly231Arg). One family with 2 affected siblings presented with cholestasis, hepatomegaly, high hepatic transaminases, and congenital heart disease. The other unrelated case showed similar symptoms.

As there are only 2 cases and currently there are no animal models that replicate the human phenotype this gene has been given an Amber rating until more evidence is available.
Created: 8 Nov 2021, 10:18 a.m. | Last Modified: 8 Nov 2021, 10:18 a.m.
Panel Version: 1.796
Created: 8 Nov 2021, 10:18 a.m.
Last Modified: 8 Nov 2021, 10:18 a.m.
Panel version: 1.796

Dmitrijs Rots (Children's Clinical University Hospital)

I don't know

Three cases from two families with biallelic variants and very similar phenotype including rare combination of symtoms (allagile-like) cholestasis with hepatomegaly and congenital heart disease. Phenotype could be important for fetal panel.
Sources: Literature
Created: 30 Oct 2021, 11:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cholestasis; congenital heart disease

Publications

Created: 30 Oct 2021, 11:38 a.m.

Panel version: 1.749

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Cholestasis, MONDO:0001751
  • congenital heart disease, MONDO:0005453
Tags
watchlist
OMIM
602261
Clinvar variants
Variants in MMP15
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 2

Added New Source, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to MMP15. Publications for gene: MMP15 were updated from 33875846 to 33875846; 34988996

8 Nov 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: MMP15.

8 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: mmp15 has been classified as Amber List (Moderate Evidence).

8 Nov 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: MMP15 were changed from Cholestasis; congenital heart disease to Cholestasis, MONDO:0001751; congenital heart disease, MONDO:0005453

8 Nov 2021, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: MMP15 were set to PMID: 33875846

30 Oct 2021, Gel status: 0

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

Dmitrijs Rots (Children's Clinical University Hospital)

gene: MMP15 was added gene: MMP15 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: MMP15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMP15 were set to PMID: 33875846 Phenotypes for gene: MMP15 were set to Cholestasis; congenital heart disease Review for gene: MMP15 was set to AMBER