1. Panels
  2. Congenital muscular dystrophy and congenital myopathy
  3. MATR3
STRs in panel
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Congenital muscular dystrophy and congenital myopathy

Gene: MATR3

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

2 reviews

Anna Sarkozy (Great Ormond Street Hospital)

Red List (low evidence)

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

Phenotypes
Amyotrophic lateral sclerosis 21 606070

Publications

Created: 6 Mar 2017, 12:14 p.m.

Copied from panel: Congenital myopathy v3.60

Helen Brittain (Genomics England Curator)

Red List (low evidence)

Comment when marking as ready: Not appropriate for congenital myopathy panel. Adult ALS / FTD presentation
Created: 3 Feb 2017, 10:55 a.m.
Comment on list classification: Adult onset ALS / FTD gene
Created: 3 Feb 2017, 10:54 a.m.
This is an AD adult onset ALS / fronto-temporal dementia gene and therefore not appropriate for congenital myopathy panel.
Created: 26 Jan 2017, 2:27 p.m.

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

Phenotypes
Amyotrophic lateral sclerosis 21 606070

Publications

Created: 26 Jan 2017, 2:27 p.m.

Copied from panel: Congenital myopathy v3.60

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
Phenotypes
  • Amyotrophic lateral sclerosis 21, OMIM:606070
Tags
adult-onset
OMIM
164015
Clinvar variants
Variants in MATR3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Feb 2023, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: MATR3 was added gene: MATR3 was added to Congenital muscular dystrophy and congenital myopathy. Sources: Expert Review Red,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services adult-onset tags were added to gene: MATR3. Mode of inheritance for gene: MATR3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MATR3 were set to 24686783 Phenotypes for gene: MATR3 were set to Amyotrophic lateral sclerosis 21, OMIM:606070 Penetrance for gene: MATR3 were set to Complete