MEGF10

Chr 5

multiple EGF like domains 10

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

NCBI Gene: 84466ENSG00000145794UniProt: Q96KG7

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]

Primary Disease Associations & Inheritance

UniProtCongenital myopathy 10A, severe variant
UniProtCongenital myopathy 10B, mild variant
0
ClinVar variants
0
Pathogenic / LP
0.39
pLI score
0
Active trials
Clinical Summary— MEGF10
🧬
Gene-Disease Validity (ClinGen)
MEGF10-related myopathy · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.23) despite low pLI — interpret in context.
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.35LOEUF
pLI 0.390
Z-score 5.85
OE 0.23 (0.15–0.35)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.05Z-score
OE missense 0.89 (0.83–0.95)
608 obs / 685.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.23 (0.15–0.35)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.89 (0.83–0.95)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.94
0≤1.21.6
LoF obs/exp: 15 / 66.5Missense obs/exp: 608 / 685.3Syn Z: 0.76

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MEGF10 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Gene2Phenotype Curations

MEGF10-related myopathy, early-onset, areflexia, respiratory distress, and dysphagia

definitive
ARLoss Of FunctionAbsent Gene Product
Dev. Disorders
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes.
Harris E et al.·Neuromuscul Disord
2018Review
A review of core myopathy: central core disease, multiminicore disease, dusty core disease, and core-rod myopathy.
Ogasawara M et al.·Neuromuscul Disord
2021Review
Baseline Serum and Stool Microbiome Biomarkers Predict Clinical Efficacy and Tissue Molecular Response After Ritlecitinib Induction Therapy in Ulcerative Colitis.
Hassan-Zahraee M et al.·J Crohns Colitis
2024Clinical trial
Disulfidoptosis-related molecular subtypes and prognostic model for optimizing drug therapy in metastatic osteosarcoma patients.
Wang X et al.·FASEB J
2024Cohort
The impact of Megf10/Drpr gain-of-function on muscle development in Drosophila.
Draper I et al.·FEBS Lett
2019
[A family with early onset myopathy caused by MEGF10 gene defect and literature review].
Lin YF et al.·Zhonghua Er Ke Za Zhi
2023Review
Selective serotonin reuptake inhibitors ameliorate MEGF10 myopathy.
Saha M et al.·Hum Mol Genet
2019
Astrocytic SIRT1 ameliorates cognitive deficits after traumatic brain injury via autophagy-mediated MEGF10 phagocytosis.
Ji Q et al.·J Neuroinflammation
2025
Identification of a novel mutation and genotype-phenotype relationship in MEGF10 myopathy.
Fujii K et al.·Neuromuscul Disord
2022Case report
Identification of a de-novo variant of the MEGF10 gene associated with EMARDD.
Darfallah L et al.·Rev Esp Patol
2025Case report
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools