Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ISCA site 1 | RCV000511005 | SCV000585644 | likely pathogenic | See cases | 2015-06-22 | no assertion criteria provided | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000683814 | SCV000811323 | pathogenic | not provided | 2021-04-01 | no assertion criteria provided | clinical testing | This copy number gain involves several genes including TBX6 (OMIM 602427) and is associated with the proximal (BP4-BP5) 16p11.2 microduplication syndrome (OMIM 614671). Typical features include autism spectrum disorder, intellectual disability, and neuropsychiatric disorders such as attention deficit hyperactivity disorder (ADHD), and schizophrenia. Microcephaly and low body weight are additional common features (Redaelli et al., Int J Mol Sci. 2019 Mar 4;20(5). Pii: E1095. PMID: 30836598). Inheritance from a normal or mildly affected parent has been reported, suggesting incomplete penetrance and variable expressivity. See GeneReviews for additional information and references: www.ncbi.nlm.nih.gov/books/NBK11167/, Go to: Genetically Related (Allelic) Disorders. |