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Cholestasis v2.0 MMP15 Gene migrated from ENSG00000102996 to ENSG00000102996 (gene set migration)
Cholestasis v1.10 Rylee Peters Added reviews for gene MMP15 from panel Mendeliome
Cholestasis v0.210 MMP15 Zornitza Stark Marked gene: MMP15 as ready
Cholestasis v0.210 MMP15 Zornitza Stark Gene: mmp15 has been classified as Amber List (Moderate Evidence).
Cholestasis v0.210 MMP15 Zornitza Stark Classified gene: MMP15 as Amber List (moderate evidence)
Cholestasis v0.210 MMP15 Zornitza Stark Gene: mmp15 has been classified as Amber List (Moderate Evidence).
Cholestasis v0.209 MMP15 Zornitza Stark 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
Added comment: 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: Literature