1. Genes and Genomic Entities
  2. MATN3

MATN3

matrilin 3
OMIM: 602109, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green MATN3 in Multiple Epiphyseal Dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.6

review 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
Green MATN3 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.63
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • MED
    • multiple epiphyseal dysplasia
    • Multiple Epiphyseal Dysplasia, Dominant
    • Disproportionate Short Stature
    • Epiphyseal dysplasia, multiple, 5, 607078
    • {Osteoarthritis susceptibility 2}, 140600
    • Spondyloepimetaphyseal dysplasia, 608728
    • Spondyloepimetaphyseal dysplasia, 608728
    Green MATN3 in Fetal anomalies


    Version 3.164
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5
    Red MATN3 in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.5
    Latest signed off version: v4.0 (22 Mar 2023)

    		review Not set
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Epiphyseal dysplasia, multiple, 5, 607078
    • {Osteoarthritis susceptibility 2}, 140600
    • Spondyloepimetaphyseal dysplasia, 608728
    • Disproportionate Short Stature
    Green MATN3 in DDG2P


    Version 3.88
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5 607078
    Red MATN3 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Epiphyseal dysplasia, multiple, 5, 607078
    • {Osteoarthritis
    • susceptibility 2}, 140600
    • Spondyloepimetaphyseal dysplasia, 608728
    Green MATN3 in Severe Paediatric Disorders


    Version 1.184

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Epiphyseal dysplasia, multiple, 5, 607078
    • ?Spondyloepimetaphyseal dysplasia, 608728