Congenital myopathy
Gene: MEGF10EnsemblGeneIds (GRCh38): ENSG00000145794
EnsemblGeneIds (GRCh37): ENSG00000145794
OMIM: 612453, Gene2Phenotype
MEGF10 is in 5 panels
4 reviews
Louise Daugherty (Genomics England Curator)
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.
Rachael Mein (Viapath at Guy's Hospital)
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
Anna Sarkozy (Great Ormond Street Hospital)
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
Helen Brittain (Genomics England Curator)
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
- PMID 22101682
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- London South GLH
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, OMIM:614399
- Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, OMIM:614399
- OMIM
- 612453
- Clinvar variants
- Variants in MEGF10
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to MEGF10.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source London South GLH was added to MEGF10. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Helen Brittain (Genomics England Curator)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.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Helen Brittain (Genomics England Curator)Publications for MEGF10 were set to 22101682
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)MEGF10 was added to Congenital myopathypanel. Sources: Expert
Added New Source
GEL ()MEGF10 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()MEGF10 was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services