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  2. Muscular dystrophy and myopathy_Paediatric
  3. MEGF10
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Muscular dystrophy and myopathy_Paediatric

Gene: MEGF10

Green List (high evidence)
MEGF10 (multiple EGF like domains 10)
EnsemblGeneIds (GRCh38): ENSG00000145794
EnsemblGeneIds (GRCh37): ENSG00000145794
OMIM: 612453, Gene2Phenotype
MEGF10 is in 7 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Assigned a definitive gene-disease validity classification by the ClinGen congenital myopathy GCEP - 27/1/2020
Sources: Expert list
Created: 2 Jun 2023, 1:42 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MEGF10-Related Myopathy MONDO:0013731

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 2 Jun 2023, 1:42 a.m.

Panel version: 0.182

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 4 families reported, two animal models.
Created: 15 Oct 2020, 10:27 a.m. | Last Modified: 15 Oct 2020, 10:27 a.m.
Panel Version: 0.273

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, MIM# 614399

Publications

Created: 15 Oct 2020, 10:27 a.m.
Last Modified: 15 Oct 2020, 10:27 a.m.
Panel version: Imported from Myopathy - paediatric onset panel version 0.273

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
Phenotypes
  • MEGF10-Related Myopathy MONDO:0013731
OMIM
612453
Clinvar variants
Variants in MEGF10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: megf10 has been classified as Green List (High Evidence).

2 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: megf10 has been classified as Green List (High Evidence).

2 Jun 2023, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: MEGF10 was added gene: MEGF10 was added to Muscular dystrophy_Paediatric. Sources: Expert list Mode of inheritance for gene: MEGF10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MEGF10 were set to 22101682; 22371254; 23453856; 27460346 Phenotypes for gene: MEGF10 were set to MEGF10-Related Myopathy MONDO:0013731 gene: MEGF10 was marked as current diagnostic