Distal myopathies
Gene: MATR3EnsemblGeneIds (GRCh38): ENSG00000015479
EnsemblGeneIds (GRCh37): ENSG00000015479
OMIM: 164015, Gene2Phenotype
MATR3 is in 6 panels
1 review
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: can cause a distal myopathy phenotype. in OMIM is recorded as an amyotrophic lateral sclerosis phenotypeCreated: 20 Feb 2017, 4:37 p.m.
One mutation associated with distal myopathy with vocal cord and pharyngeal weakness, p .S85C. This phentype was also classified as amyotrophic lateral sclerosis (PMID 19344878) and its omim phenotype number is 606070Created: 1 Feb 2017, 10:32 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
autosomal dominant distal myopathy with vocal cordand pharyngeal weakness
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Distal Myopathy
- OMIM
- 164015
- Clinvar variants
- Variants in MATR3
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 22nd of February 2017, after revising with the curation team and the expert from UCL Dr Bugiardini.
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Arianna Tucci (Genomics England Curator)Mode of inheritance for MATR3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)MATR3 was added to Distal myopathiespanel. Sources: Illumina TruGenome Clinical Sequencing Services