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  2. Fetal anomalies
  3. MATN3
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Fetal anomalies

Gene: MATN3

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

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as All missense/in frame.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.134

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5
OMIM
602109
Clinvar variants
Variants in MATN3
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: MATN3 was added gene: MATN3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MATN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MATN3 were set to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5