Cholestasis
Gene: MMP15Comment 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
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: LiteratureCreated: 30 Oct 2021, 11:35 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cholestasis; congenital heart disease
Publications
Tag watchlist tag was added to gene: MMP15.
Gene: mmp15 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: MMP15 were changed from Cholestasis; congenital heart disease to Cholestasis, MONDO:0001751; congenital heart disease, MONDO:0005453
Publications for gene: MMP15 were set to PMID: 33875846
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