Cholestasis
Gene: MMP15
MMP15 (matrix metallopeptidase 15)
EnsemblGeneIds (GRCh38): ENSG00000102996
EnsemblGeneIds (GRCh37): ENSG00000102996
OMIM: 602261, Gene2Phenotype
MMP15 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000102996
EnsemblGeneIds (GRCh37): ENSG00000102996
OMIM: 602261, Gene2Phenotype
MMP15 is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Three individuals from two families with bi-allelic variants and very similar phenotype including rare combination of symtoms (Alagille-like) cholestasis with hepatomegaly and congenital heart disease.
Sources: LiteratureCreated: 3 Dec 2021, 9:23 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cholestasis; Congenital heart disease
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Cholestasis
- Congenital heart disease
- OMIM
- 602261
- Clinvar variants
- Variants in MMP15
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
3 Dec 2021, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mmp15 has been classified as Amber List (Moderate Evidence).
3 Dec 2021, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mmp15 has been classified as Amber List (Moderate Evidence).
3 Dec 2021, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)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 33875846 Phenotypes for gene: MMP15 were set to Cholestasis; Congenital heart disease Review for gene: MMP15 was set to AMBER