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Cholestasis

Gene: MMP15

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

2 reviews

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, 9:29 a.m. | Last Modified: 8 Nov 2021, 9:29 a.m.
Panel Version: 1.91
Created: 8 Nov 2021, 9:29 a.m.
Last Modified: 8 Nov 2021, 9:29 a.m.
Panel version: 1.91

Dmitrijs Rots (Children's Clinical University Hospital)

Green List (high evidence)

Three cases from two families with biallelic variants and very similar phenotype including rare combination of symtoms (allagile-like) cholestasis and congenital heart disease.
Sources: Literature
Created: 30 Oct 2021, 11:35 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cholestasis; congenital heart disease

Publications

Created: 30 Oct 2021, 11:35 a.m.

Panel version: 1.88

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Cholestasis, MONDO:0001751
  • congenital heart disease, MONDO:0005453
Tags
watchlist
OMIM
602261
Clinvar variants
Variants in MMP15
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

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, Set penetrance

Dmitrijs Rots (Children's Clinical University Hospital)

gene: MMP15 was added gene: MMP15 was added to Cholestasis. 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 Penetrance for gene: MMP15 were set to unknown Review for gene: MMP15 was set to GREEN