Home > Gene Browser > MEGF10

MEGF10

Synonyms
EMARDD, SR-F3
External resources
Summary
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.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
12
Likely pathogenic
0
VUS
2,654
Likely benign
4,064
Benign
7,004

Patient Phenotypes

Proportions of phenotypes among 12 patients carrying pathogenic or likely pathogenic variants on MEGF10 gene are displayed below. The following symptoms were found in patients with a variant in MEGF10. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the integument
33.3%
Abnormality of the eye
25%
Abnormality of the nervous system
25%
Abnormality of head or neck
16.7%
Abnormality of the immune system
16.7%
Abnormality of the musculoskeletal system
16.7%
Abnormal cellular phenotype
8.3%
Abnormality of blood and blood forming tissues
8.3%
Abnormality of metabolism homeostasis
8.3%
Abnormality of prenatal development or birth
8.3%
Growth abnormality
8.3%
Abnormality of limbs
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes.