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  2. Osteogenesis imperfecta
  3. MATN3
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Osteogenesis imperfecta

Gene: MATN3

Red List (low evidence)
MATN3 (matrilin 3)
EnsemblGeneIds (GRCh38): ENSG00000132031
EnsemblGeneIds (GRCh37): ENSG00000132031
OMIM: 602109, Gene2Phenotype
MATN3 is in 6 panels

3 reviews

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Red List (low evidence)

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Raymond Dalgleish (University of Leicester)

Red List (low evidence)

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

Red List (low evidence)

Phenotypes
Spondyloepimetaphyseal Dysplasia; Multiple Epiphyseal Dysplasia

Publications

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Details

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
OMIM
602109
Clinvar variants
Variants in MATN3
Penetrance
Complete
Panels with this gene

History Filter Activity

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

Chris Boustred (Genomics England)

This gene has been classified as Red List (Low Evidence).

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

Chris Boustred (Genomics England)

This gene has been classified as Red List (Low Evidence).

20 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

MATN3 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MATN3 was added to Osteogenesis Imperfecta panel. Sources: Radboud University Medical Center, Nijmegen