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RPL5
Alias
DBA6; L5; MSTP030; PPP1R135
Associated disorders
The RPL5 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 75558).
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RPL5
Order this gene as a single gene test.
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Invitae tests that include this gene:
Invitae Sarcoma Panel up to 36 genes
Clinical sensitivity
The percentage of Diamond-Blackfan anemia attributed to pathogenic variants identified in RPL5 is roughly 7%.
Gene function
The RPL5 gene encodes for the 60S ribosomal protein L5 which is located in the cytoplasm. As a ribosomal protein, RPL5 catalyzes protein synthesis, transports nonribosome-associated cytoplasmic 5S rRNA to the nucleolus for assembly into ribosomes, and specifically plays a role in p53 regulation.
References
- Clinton, C, Gazda, HT. Diamond-Blackfan Anemia. 2009 Jun 25. In: Pagon, RA, et al, editors. GeneReviews(®) (Internet). University of Washington, Seattle. PMID: 20301769
- Vlachos, A, et al. Clinical utility gene card for: Diamond-Blackfan anemia--update 2013. Eur. J. Hum. Genet. 2013; 21(10):None. PMID: 23463023
- Vlachos, A, et al. Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. Br. J. Haematol. 2008; 142(6):859-76. PMID: 18671700
Assay
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 |
|---|---|---|---|
| RPL5 | NM_000969.3 |
Resources
Clinical resources
Hereditary cancer gene list Invitae brochure Hereditary cancer risks and references chart Genes and associated cancers chart Hematology gene listReferences
- Clinton, C, Gazda, HT. Diamond-Blackfan Anemia. 2009 Jun 25. In: Pagon, RA, et al, editors. GeneReviews(®) (Internet). University of Washington, Seattle. PMID: 20301769
- Vlachos, A, et al. Clinical utility gene card for: Diamond-Blackfan anemia--update 2013. Eur. J. Hum. Genet. 2013; 21(10):None. PMID: 23463023
- Vlachos, A, et al. Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. Br. J. Haematol. 2008; 142(6):859-76. PMID: 18671700
