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Motor Neurone Disease

Gene: MATR3

Green List (high evidence)
MATR3 (matrin 3)
EnsemblGeneIds (GRCh38): ENSG00000015479
EnsemblGeneIds (GRCh37): ENSG00000015479
OMIM: 164015, Gene2Phenotype
MATR3 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Amyotrophic lateral sclerosis-21 (ALS21) is an autosomal dominant neurodegenerative disorder affecting upper and lower motor neurons, resulting in muscle weakness and respiratory failure. Some patients may develop myopathic features or dementia.

More than 5 unrelated families reported, functional data.
Created: 17 May 2022, 8:41 a.m. | Last Modified: 17 May 2022, 8:41 a.m.
Panel Version: 0.14419

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyotrophic lateral sclerosis 21, MIM# 606070; Distal myopathy

Publications

Created: 17 May 2022, 8:41 a.m.
Last Modified: 17 May 2022, 8:41 a.m.
Panel version: Imported from Mendeliome panel version 0.14419

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: >3 cases with ALS/MND
Created: 18 Dec 2019, 7:10 a.m. | Last Modified: 18 Dec 2019, 7:10 a.m.
Panel Version: 0.18
Created: 18 Dec 2019, 7:10 a.m.
Last Modified: 18 Dec 2019, 7:10 a.m.
Panel version: Imported from Amyotrophic Lateral Sclerosis and Motor Neuron Disease panel version 0.18

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
OMIM
164015
Clinvar variants
Variants in MATR3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Sep 2023, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: MATR3 were set to

12 Sep 2023, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: MATR3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MATR3 was added gene: MATR3 was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: MATR3 was set to Unknown