Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Victorian Clinical Genetics Services, |
RCV001089961 | SCV001244992 | pathogenic | Menkes kinky-hair syndrome | 2018-09-23 | criteria provided, single submitter | clinical testing | This sample showed a male molecular karyotype with an interstitial hemizygous deletion of approximately 74 kilobases on the long arm of one chromosome X at cytogenetic band q21.1. This microdeletion involves exons 3 to 23 of the ATP7A gene (NM_000052.6). Hemizygous mutations and deletions of ATP7A leading to loss of function of this gene are associated with X linked recessive Menkes disease (Gene Reviews, PMID:20301586, OMIM# 300011). |