Limb girdle muscular dystrophy

Gene: MATR3

Red List (low evidence)

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

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Created: 28 Nov 2019, 4:50 p.m. | Last Modified: 28 Nov 2019, 4:50 p.m.
Panel Version: 1.141

Chiara Marini Bettolo (NUTH)

Red List (low evidence)

Predominantly distal myopathy with vocal cord parlysis and dysphagia. Raised CK
Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
ALS; myofibrillar myopathy

Publications

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

Ana Topf (John Walton Muscular Dystrophy Research Centre)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyotrophic lateral sclerosis 21, 606070

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Amyotrophic lateral sclerosis 21, 606070
  • ALS
  • myofibrillar myopathy
OMIM
164015
Clinvar variants
Variants in MATR3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: matr3 has been classified as Red List (Low Evidence).

28 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: matr3 has been classified as Red List (Low Evidence).

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MATR3.

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to MATR3.

13 May 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: MATR3 were changed from Amyotrophic lateral sclerosis 21, 606070 to Amyotrophic lateral sclerosis 21, 606070; ALS; myofibrillar myopathy

17 Apr 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene MATR3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Amyotrophic lateral sclerosis 21, 606070 for gene: MATR3 Publications for gene MATR3 were changed from to 19344878

17 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: MATR3 was added gene: MATR3 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: MATR3 was set to