Associated disorders

The RYR1 gene is associated with autosomal recessive and dominant central core disease (CCD) (MedGen UID: 199773) and autosomal recessive congenital myopathy with fiber-type disproportion (CFTD) (MedGen UID: 108177) and multiminicore disease (MmD) (MedGen UID: 388775). It is also associated with autosomal dominant centronuclear myopathy (CNM) (MedGen UID: 799613) and malignant hyperthermia susceptibility type 1 (MHS1) (MedGen UID: 833963).

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RYR1: Deletion/duplication analysis is not offered for exons 48 or 49.

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Invitae tests that include this gene:

RYR1 has been found to account for 90% of CCD cases and an estimated 20% of MmD cases.

RYR1 encodes the skeletal muscle ryanodine receptor protein. This protein’s function is to serve as the channel through which stored calcium flows from the lumen of the sarcoplasmic reticulum into the cytoplasm ennabling muscle contraction.

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, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

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
RYR1* NM_000540.2

*RYR1: Deletion/duplication analysis is not offered for exons 48 or 49.