Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center of Genomic medicine, |
RCV000032259 | SCV000292228 | pathogenic | Blepharophimosis - intellectual disability syndrome, SBBYS type | 2015-03-16 | criteria provided, single submitter | clinical testing | Mutations in the KAT6B gene are well known to be involved in the Ohdo/SBBYS syndrome. Here we report the case of a new-born girl with clinical suspicion of this syndrome and harbouring a pathogenic de novo mutation in this gene |
Gene |
RCV000032259 | SCV000055893 | not provided | Blepharophimosis - intellectual disability syndrome, SBBYS type | no assertion provided | literature only | ||
Lee Lab |
RCV000128657 | SCV000172297 | not provided | not provided | no assertion provided | not provided |