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  2. Multiple epiphyseal dysplasia and pseudoachondroplasia
  3. MATN3
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Multiple epiphyseal dysplasia and pseudoachondroplasia

Gene: MATN3

Green List (high evidence)
MATN3 (matrilin 3)
EnsemblGeneIds (GRCh38): ENSG00000132031
EnsemblGeneIds (GRCh37): ENSG00000132031
OMIM: 602109, Gene2Phenotype
MATN3 is in 5 panels

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Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epiphyseal dysplasia, multiple, 5, 607078
  • Multiple Epiphyseal Dysplasia, Dominant
  • MED
  • multiple epiphyseal dysplasia
  • Disproportionate Short Stature
  • {Osteoarthritis susceptibility 2}, 140600
  • Spondyloepimetaphyseal dysplasia, 608728
OMIM
602109
Clinvar variants
Variants in MATN3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Tiong Tan (Victorian Clinical Genetics Services)

gene: MATN3 was added gene: MATN3 was added to Multiple epiphyseal dysplasia and pseudoachondroplasia. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: MATN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MATN3 were set to 16287128; 15121775; 16199550; 11479597; 30080953 Phenotypes for gene: MATN3 were set to Epiphyseal dysplasia, multiple, 5, 607078; Multiple Epiphyseal Dysplasia, Dominant; MED; multiple epiphyseal dysplasia; Disproportionate Short Stature; {Osteoarthritis susceptibility 2}, 140600; Spondyloepimetaphyseal dysplasia, 608728