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IGHMBP2
Overview
Alias
CATF1; CMT2S; HCSA; HMN6; SMARD1; SMUBP2; ZFAND7
Associated disorders
The IGHMBP2 gene is associated with autosomal recessive distal hereditary motor neuropathy 6, also known as spinal muscular atrophy with respiratory distress 1 (SMARD1) (MedGen UID: 388083) and Charcot-Marie-Tooth disease type 2S (CMT2S) (MedGen UID: 830572).
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IGHMBP2
Order this gene as a single gene test.
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Invitae tests that include this gene:
Clinical sensitivity
Pathogenic variants in IGHMBP2 cause an estimated 33% of cases of SMARD and an unknown percentage of CMT.
Gene function
IGHMBP2 encodes an an enzyme named immunoglobulin μ-binding protein 2. This enzyme is a helicase and unwinds DNA during replication.
References
- Grohmann, K, et al. Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1). Hum. Mol. Genet. 2004; 13(18):2031-42. PMID: 15269181
- Guenther, UP, et al. Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis. Hum. Mutat. 2007; 28(8):808-15. PMID: 17431882
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 |
|---|---|---|---|
| IGHMBP2 | NM_002180.2 |
Resources
Patient resources
Patient guide: Genetic testing simplifiedReferences
- Grohmann, K, et al. Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1). Hum. Mol. Genet. 2004; 13(18):2031-42. PMID: 15269181
- Guenther, UP, et al. Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis. Hum. Mutat. 2007; 28(8):808-15. PMID: 17431882
