Congenital myopathy

Gene: MEGF10

Green List (high evidence)

MEGF10 (multiple EGF like domains 10)
EnsemblGeneIds (GRCh38): ENSG00000145794
EnsemblGeneIds (GRCh37): ENSG00000145794
OMIM: 612453, Gene2Phenotype
MEGF10 is in 8 panels

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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)

Green List (high evidence)

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)

Green List (high evidence)

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)

Green List (high evidence)

Comment when marking as ready: Sufficient evidence, phenotype appropriate
Created: 3 Feb 2017, 10:58 a.m.
Comment on list classification: 5 families, congenital onset, myopathy / severe weakness with respiratory compromise
Created: 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

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, Early-Onset, Areflexia, Respiratory Distress, andDysphagia
  • Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399
OMIM
612453
Clinvar variants
Variants in MEGF10
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

30 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MEGF10.

30 Apr 2019, Gel status: 3

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)

22 Feb 2017, Gel status: 4

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.

3 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Feb 2017, Gel status: 4

Set publications

Helen Brittain (Genomics England Curator)

Publications for MEGF10 were set to 22101682

3 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 May 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

MEGF10 was added to Congenital myopathypanel. Sources: Expert

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

MEGF10 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

MEGF10 was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services