Multiple Epiphyseal Dysplasia
Gene: MATN3EnsemblGeneIds (GRCh38): ENSG00000132031
EnsemblGeneIds (GRCh37): ENSG00000132031
OMIM: 602109, Gene2Phenotype
MATN3 is in 6 panels
4 reviews
Christine Burren (University Hospitals Bristol NHS Foundation Trust)
Sarah Smithson (University Hospitals Bristol NHS Foundation Trust )
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Confirmed DD gene.Created: 5 Feb 2016, 3:27 p.m.
Michael Briggs (Newcastle University)
MATN3 mutations in MED are primarily located in exon 2 which encodes the single vWFA domain of matrilin-3. MATN3 mutations are the second most common cause of MED and account for approximately 20% of molecularly confirmed MED. Mode of pathogenicity is dominant negative. Misfolded mutant matrilin-3 accumulates in the ER eventually causing cell stress and reduced chondrocyte proliferation in the growth plate.Created: 12 Oct 2015, 2:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
multiple epiphyseal dysplasia
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- multiple epiphyseal dysplasia
- Multiple Epiphyseal Dysplasia, Dominant
- Epiphyseal dysplasia, multiple, 5, 607078
- OMIM
- 602109
- Clinvar variants
- Variants in MATN3
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MATN3 were set to multiple epiphyseal dysplasia; Multiple Epiphyseal Dysplasia, Dominant; Epiphyseal dysplasia, multiple, 5, 607078
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MATN3 were set to PMID: 21922596; 20301302; 20358595
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for MATN3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()MATN3 was added to Multiple Epiphyseal Dysplasiapanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()MATN3 was added to Multiple Epiphyseal Dysplasiapanel. Sources: Emory Genetics Laboratory
Added New Source
GEL ()MATN3 was added to Multiple Epiphyseal Dysplasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services