MEGF10

Chr 5

multiple EGF like domains 10

Also known as: CMYO10A, CMYO10B, CMYP10A, CMYP10B, EMARDD, SR-F3

NCBI Gene: 84466 ENSG00000145794 UniProt: Q96KG7

The encoded protein is a membrane receptor that mediates phagocytosis of apoptotic cells by macrophages and astrocytes, and regulates muscle cell proliferation, adhesion, motility, and myogenesis through the Notch signaling pathway. Mutations cause early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD) as well as congenital myopathy with minicores, inherited in an autosomal recessive pattern. The gene is highly constrained against loss-of-function variants (LOEUF 0.347), and affected infants typically present with severe muscle weakness and respiratory complications from birth.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the multiple epidermal growth factor-like domains protein family. The encoded protein plays a role in cell adhesion, motility and proliferation, and is a critical mediator of apoptotic cell phagocytosis as well as amyloid-beta peptide uptake in the brain. Expression of this gene may be associated with schizophrenia, and mutations in this gene are a cause of early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD) as well as congenital myopathy with minicores. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCongenital myopathy 10A, severe variant

UniProtCongenital myopathy 10B, mild variant

Clinical highlights

Gene-disease validity (ClinGen)

MEGF10-related myopathy · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.35

LOEUF· LoF intol.

LOF

Mechanism· G2P

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