MMP14

matrix metallopeptidase 14
OMIM: 600754, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber MMP14 in Mendeliome


Version 1.4804

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Amber
Phenotypes
  • Winchester syndrome 277950

Amber MMP14 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.433

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Winchester syndrome 277950