Limb-Girdle Muscular Dystrophy and Distal Myopathy

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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 13 families with distal myopathy with vocal cord and pharyngeal weakness reported with the same recurrent missense variant p.Ser85Cys, which has been shown to arise by independent mutational events in multiple populations. A mouse model of the variant recapitulated the multisystem proteinopathy phenotype which includes myopathy. The mechanism of disease is toxic gain of function
Sources: Literature
Created: 14 Apr 2023, 6:41 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
distal myopathy with vocal cord weakness MONDO:0018951

Publications

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • distal myopathy with vocal cord weakness MONDO:0018951
OMIM
164015
Clinvar variants
Variants in MATR3
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

14 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: matr3 has been classified as Green List (High Evidence).

14 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: matr3 has been classified as Green List (High Evidence).

14 Apr 2023, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: MATR3 was added gene: MATR3 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature Mode of inheritance for gene: MATR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MATR3 were set to 19344878; 34659085; 25154462; 31056746 Phenotypes for gene: MATR3 were set to distal myopathy with vocal cord weakness MONDO:0018951 Mode of pathogenicity for gene: MATR3 was set to Other Review for gene: MATR3 was set to GREEN gene: MATR3 was marked as current diagnostic