1. Panels
  2. Congenital muscular dystrophy and congenital myopathy
  3. MEGF10
STRs in panel
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Congenital muscular dystrophy and 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 5 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.
Created: 30 Apr 2019, 10:09 a.m.

Copied from panel: Congenital myopathy v3.61

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

Created: 30 Apr 2019, 10:05 a.m.

Copied from panel: Congenital myopathy v3.61

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

Created: 6 Mar 2017, 12:14 p.m.

Copied from panel: Congenital myopathy v3.61

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

Created: 26 Jan 2017, 2:38 p.m.

Copied from panel: Congenital myopathy v3.61

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • NHS GMS
  • Expert
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

3 Feb 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Arina Puzriakova (Genomics England Curator)

gene: MEGF10 was added gene: MEGF10 was added to Congenital muscular dystrophy and congenital myopathy. Sources: Expert,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,London South GLH,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: MEGF10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MEGF10 were set to 22101682 Phenotypes for gene: MEGF10 were set to Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, OMIM:614399; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, OMIM:614399 Penetrance for gene: MEGF10 were set to Complete