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MECP2

Alias

AUTSX3; MRX16; MRX79; MRXS13; MRXSL; PPMX; RS; RTS; RTT

Associated disorders

The MECP2 gene is associated with X-linked Rett syndrome / atypical Rett syndrome (MedGen UID: 48441) and X-linked MECP2 duplication syndrome (MedGen: 337496), a contiguous gene duplication involving MECP2 as well as other neighboring genes within Xq28.

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MECP2

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Invitae tests that include this gene:

Pathogenic variants in MECP2 are associated with 95% of Rett syndrome, 75% of atypical Rett syndrome and 1.5% of Angelman syndrome.

DNA in cells is organized into chromatin to allow for efficient and tightly regulated gene expression. The MECP2 gene encodes a protein that binds to and stabilizes methylated (transcriptionally silent) DNA. It also both up-regulates and down-regulates transcription of many genes (PMID: 18511691).

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
MECP2 NM_004992.3; NM_001110792.1