Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: MATR3Comment 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
Predominantly distal myopathy with vocal cord parlysis and dysphagia. Raised CKCreated: 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
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Amyotrophic lateral sclerosis 21, 606070
Publications
Gene: matr3 has been classified as Red List (Low Evidence).
Gene: matr3 has been classified as Red List (Low Evidence).
Source NHS GMS was added to MATR3.
Source Yorkshire and North East GLH was added to MATR3.
Phenotypes for gene: MATR3 were changed from Amyotrophic lateral sclerosis 21, 606070 to Amyotrophic lateral sclerosis 21, 606070; ALS; myofibrillar myopathy
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
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