MMP9

matrix metallopeptidase 9
OMIM: 120361, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green MMP9 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.223

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert list
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Phenotypes
  • Metaphyseal anadysplasia 2 - MIM# 613073

Green MMP9 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Metaphyseal anadysplasia 2, MIM# 613073

Green MMP9 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • Expert list
  • Emory Genetics Laboratory
  • Victorian Clinical Genetics Services
Phenotypes
  • 613073METAPHYSEAL ANADYSPLASIA 2
  • Metaphyseal anadysplasia 2 613073

Green MMP9 in Metaphyseal dysplasias

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.5

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • 613073METAPHYSEAL ANADYSPLASIA 2

Amber MMP9 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Expert list
Phenotypes
  • Metaphyseal anadysplasia 2 - MIM# 613073