MMP15

matrix metallopeptidase 15
OMIM: 602261, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber MMP15 in Cholestasis


Level 2: Gastrohepatology
Version 3.19
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cholestasis, MONDO:0001751
  • congenital heart disease, MONDO:0005453
Tags
  • watchlist
Amber MMP15 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • Literature
Phenotypes
  • Cholestasis, MONDO:0001751
  • congenital heart disease, MONDO:0005453
Tags
  • watchlist
Red MMP15 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • MMP15-related developmental disorder