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  2. BRIDGE_SPEED_NEURO_20170705
  3. MATN3
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BRIDGE_SPEED_NEURO_20170705

Gene: MATN3

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

2 reviews

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : All missense/in frame
Created: 28 Jul 2017, 9:35 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Mode of pathogenicity
Other

Created: 2 Aug 2017, 4:50 p.m.

Panel version: 0.191

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: corrected format issue
Created: 31 Jul 2017, 12:30 p.m.
Created: 31 Jul 2017, 12:30 p.m.

Panel version: 0.94

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE study SPEED NEURO Tier1 Gene
  • Expert Review Green
Phenotypes
  • Epiphyseal dysplasia, multiple, 5, 607078
  • {Osteoarthritis susceptibility 2}, 140600
  • Spondyloepimetaphyseal dysplasia, 608728
OMIM
602109
Clinvar variants
Variants in MATN3
Penetrance
Complete
Panels with this gene

History Filter Activity

31 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for MATN3 were set to Epiphyseal dysplasia, multiple, 5, 607078; {Osteoarthritis susceptibility 2}, 140600; Spondyloepimetaphyseal dysplasia, 608728

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

MATN3 was created by LouiseD

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

MATN3 was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green