Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| New York Genome Center | RCV001839073 | SCV002098967 | pathogenic | Distal 7q11.23 microdeletion syndrome | 2021-03-12 | criteria provided, single submitter | clinical testing | This deletion is distal to Williams-Beuren syndrome (WBS). Recurrent deletions distal to WBS region have been reported in the literature and are associated with the distal chromosome 7q11.23 deletion syndrome [MIM: 613729]. This syndrome is a rare condition that has been associated with an increased risk for epilepsy, learning difficulties, intellectual disabilities, and/or neurobehavioral abnormalities [PMIDs:21109226, 21841781, 23756441]. Clinical features can be variable; in a study of 26 individuals from ten unrelated families with distal 7q11.23 deletion, clinical features included epilepsy (80% of probands), severe global developmental delay and/or on the autistic spectrum (58%) mild intellectual disability (17%), learning disabilities (17%) and developmentally normal (8%) [PMID:21109226]. In this study, 50% of the adults with 7q11.23 deletion had no cognitive difficulties or history of neuropsychiatric disease indicating incomplete penetrance [PMID:21109226]. This deletion was inherited from an affected parent. Based on the available evidence, the inherited 3.7Mb deletion on 7q11.23-q21.11 is reported as Pathogenic. |