Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV002247599 | SCV002516553 | pathogenic | Developmental and epileptic encephalopathy, 54 | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Laboratory of Medical Genetics, |
RCV002247599 | SCV002774887 | likely pathogenic | Developmental and epileptic encephalopathy, 54 | 2022-12-23 | criteria provided, single submitter | clinical testing | |
Division of Human Genetics, |
RCV000185558 | SCV000238445 | pathogenic | Intellectual disability and seizures | 2015-05-07 | no assertion criteria provided | research | Mutations in HNRNPU have been reported in patients with intellectual disability and seizures. This gene was first described in a clinical context with respect to the 1q43q44 microdeletion syndrome. The gene content and size of deletions vary among the reported patients, but all patients with a seizure phenotype were missing a copy of HNRNPU, FAM36A and C1orf199 (Baliff et al. 2012, PMID: 21800092). There are now several reports of patients with de novo mutations in HNRNPU who have intellectual disability, developmental delays and, in several cases, seizures (Need et al. 2012, PMID: 22581936; Allen et al. 2013, PMID: 23934111; King et al. 2014, PMID: 24356988; Hamdan et al. 2014, PMID: 25356899). This variant (NM_004051.3:c.2304_2305del) is a likely pathogenic de novo frameshift mutation. This mutation does not occur in the last exon, and may result in a protein with an altered protein composition. This mutation has not previously been reported or observed in a large control database (ExAC). |