Multiple Epiphyseal Dysplasia
Gene: MATN3
Comment on list classification: Confirmed DD gene.Created: 5 Feb 2016, 3:27 p.m.
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
This gene has been classified as Green List (High Evidence).
Phenotypes for MATN3 were set to multiple epiphyseal dysplasia; Multiple Epiphyseal Dysplasia, Dominant; Epiphyseal dysplasia, multiple, 5, 607078
Publications for MATN3 were set to PMID: 21922596; 20301302; 20358595
Mode of inheritance for MATN3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
MATN3 was added to Multiple Epiphyseal Dysplasiapanel. Sources: Radboud University Medical Center, Nijmegen
MATN3 was added to Multiple Epiphyseal Dysplasiapanel. Sources: Emory Genetics Laboratory
MATN3 was added to Multiple Epiphyseal Dysplasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services