DFNA65; DFNB86; DOORS; EIEE16; FIME; TLDC6
The TBC1D24 gene is associated with a spectrum of related conditions including autosomal recessive early infantile epileptic encephalopathy (MedGen UID: 815503), DOORS syndrome (PMID: 25169651), familial infantile myoclonic epilepsy (PMID: 25769375), progressive myoclonic epilepsy (PMID: 25401298), as well as autosomal recessive and autosomal dominant nonsyndromic hearing loss (MedGen UID: 468960 and 807620, respectively).
Order this gene as a single gene test.
Invitae tests that include this gene:
Pathogenic variants in the TBC1D24 gene are a rare cause of clinical cases of early infantile epileptic encephalopathy (EIEE).
The TBC1D24 gene encodes a protein involved in regulation of vesicle trafficking, protein turnover, and neurotransmitter release at the synapse (PMID: 25422373).
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|