Congenital myopathy
Gene: MEGF10
Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.Created: 30 Apr 2019, 10:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, Early-Onset, Areflexia, Respiratory Distress, andDysphagia; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, Early-Onset, Areflexia, Respiratory Distress, andDysphagia; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399
Publications
Comment when marking as ready: Sufficient evidence, phenotype appropriateCreated: 3 Feb 2017, 10:58 a.m.
Comment on list classification: 5 families, congenital onset, myopathy / severe weakness with respiratory compromiseCreated: 3 Feb 2017, 10:57 a.m.
7 patients in 5 families in this PMID reference with early onset of disease and mostly truncating mutations.Created: 26 Jan 2017, 2:38 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset 614399; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant 614399
Publications
Phenotypes for gene: MEGF10 were changed from Myopathy, Early-Onset, Areflexia, Respiratory Distress, andDysphagia; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 to Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, OMIM:614399; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, OMIM:614399
Source NHS GMS was added to MEGF10.
Source London South GLH was added to MEGF10. Rating Changed from Green List (high evidence) to Green List (high evidence)
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 Green List (High Evidence).
Publications for MEGF10 were set to 22101682
This gene has been classified as Green List (High Evidence).
MEGF10 was added to Congenital myopathypanel. Sources: Expert
MEGF10 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen
MEGF10 was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services