Amyotrophic lateral sclerosis/motor neuron disease
Gene: MATR3

MATR3 (matrin 3)
EnsemblGeneIds (GRCh38): ENSG00000015479
EnsemblGeneIds (GRCh37): ENSG00000015479
OMIM: 164015, Gene2Phenotype
MATR3 is in 6 panels

1 review

Agnese Zarina (Rīga Stradiņš Univeristy)

I don't know

Gene is added to the "Neuromuscular diseases" super panel and "Dystal myopathies" sub-panel, but it should be added also to the "ALS" panel.
Sources: Literature
Created: 17 Jun 2021, 10:47 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyotrophic lateral sclerosis 21

Publications

https://doi.org/10.1038/nn.3688 https://doi.org/10.1002/ana.24255

Created: 17 Jun 2021, 10:47 a.m.

Panel version: 1.29

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Phenotypes

Amyotrophic lateral sclerosis 21

OMIM

164015

Clinvar variants

Variants in MATR3

Penetrance

Complete

Publications

https://doi.org/10.1038/nn.3688 https://doi.org/10.1002/ana.24255

Panels with this gene

History Filter Activity

17 Jun 2021, Gel status: 0

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

Agnese Zarina (Rīga Stradiņš Univeristy)

gene: MATR3 was added gene: MATR3 was added to Amyotrophic lateral sclerosis/motor neuron disease. Sources: Literature Mode of inheritance for gene: MATR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MATR3 were set to https://doi.org/10.1038/nn.3688 https://doi.org/10.1002/ana.24255 Phenotypes for gene: MATR3 were set to Amyotrophic lateral sclerosis 21 Penetrance for gene: MATR3 were set to Complete Review for gene: MATR3 was set to AMBER

Amyotrophic lateral sclerosis/motor neuron disease Gene: MATR3