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MEGF10

On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

Changes in the BCS1L gene were identified in a UDN participant with muscle weakness and wasting, loss of consciousness, heart rate abnormalities, and suspected abnormal autonomic nervous system physiology

Date of Report

Jul 17, 2023

Full Name

Multiple EGF Like Domains 10

Location
Chromosome 5 (5q23.2)
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Function

This gene codes for a protein that plays an important role in cell proliferation and differentiation (Takayama et al., 2016). This protein also mediates phagocytosis of apoptotic cells and is involved in the uptake of amyloid beta receptors in the brain (Iram et al., 2016; Singh et al., 2010).

Database Links

GeneCards: GC05P127230

NCBI Gene: 84466

OMIM: 612453

UniProtKB/Swiss-Prot: Q96KG7

Clinical Significance

Compound heterozygous changes in this gene were identified in a UDN participant.

Gene MEGF10
Inheritance Pattern Autosomal recessive
Position (hg19) chr8:g.126746115G>A & chr8:g.126649337C>A
Transcript NM_032446.2
DNA Change c.952G>A & c.-19+13599C>A
Protein Change p.Val318Ile & N/A
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