Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000598592 | SCV000709792 | pathogenic | not provided | 2014-10-28 | criteria provided, single submitter | clinical testing | The Q118X nonsense variant in the CDKL5 gene has been reported previously in a female patient with clinical features consistent with atypical Rett syndrome (Bahi-Buisson et al., 2008). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, the presence of Q118X is consistent with the diagnosis of a CDKL5-related disorder |
Rett |
RCV000133365 | SCV000188379 | pathogenic | Atypical Rett syndrome | 2014-03-13 | no assertion criteria provided | curation |