Muscular dystrophy and myopathy_Paediatric
Gene: MEGF10Assigned a definitive gene-disease validity classification by the ClinGen congenital myopathy GCEP - 27/1/2020
Sources: Expert listCreated: 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
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
Gene: megf10 has been classified as Green List (High Evidence).
Gene: megf10 has been classified as Green List (High Evidence).
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