Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000708502 | SCV000837612 | pathogenic | Developmental and epileptic encephalopathy, 2; Angelman syndrome-like | 2022-08-31 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the CDKL5 gene has been identified. Loss-of-function variants in CDKL5 are known to be pathogenic (PMID: 22872100). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. A similar copy number variant has been observed in individual(s) with epileptic encephalopathy and/or intellectual disability (PMID: 19780792, 21770923, 23184456). For these reasons, this variant has been classified as Pathogenic. |