Congenital myopathy
Gene: MATR3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Amyotrophic lateral sclerosis 21 606070
Publications
Comment when marking as ready: Not appropriate for congenital myopathy panel. Adult ALS / FTD presentationCreated: 3 Feb 2017, 10:55 a.m.
Comment on list classification: Adult onset ALS / FTD geneCreated: 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
Phenotypes for gene: MATR3 were changed from Amyotrophic lateral sclerosis 21 606070 to Amyotrophic lateral sclerosis 21, OMIM:606070
Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.
This gene has been classified as Red List (Low Evidence).
Phenotypes for MATR3 were set to Amyotrophic lateral sclerosis 21 606070
Publications for MATR3 were set to 24686783
This gene has been classified as Red List (Low Evidence).
MATR3 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen
MATR3 was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services