| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital Heart Defect v0.348 | NUP188 | Zornitza Stark Marked gene: NUP188 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.348 | NUP188 | Zornitza Stark Gene: nup188 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.348 | NUP188 | Zornitza Stark Classified gene: NUP188 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.348 | NUP188 | Zornitza Stark Gene: nup188 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.315 | NUP188 |
GORJANA ROBEVSKA gene: NUP188 was added gene: NUP188 was added to Congenital Heart Defect. Sources: Literature Mode of inheritance for gene: NUP188 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP188 were set to PMID: 32021605; 32275884 Phenotypes for gene: NUP188 were set to Sandestig-Stefanova syndrome MIM 618804 Review for gene: NUP188 was set to GREEN Added comment: Sandestig et al 2020/19: two unrelated female infants from consanguineous families, each with homozygous nonsense gene variants of NUP188 (p.Tyr96* and p.Gln113*, respectively). Both patients showed close similarity and specificity of clinical features including the course of the disease and a poor prognosis. Muir et al 2020: Four unrelated families with six affected female infants with bi-allelic truncating variants in NUP188. all found to have very similar phenotypes Functional studies showed: 1. Nuclear import of proteins was decreased in affected individuals’ fibroblasts, supporting a possible disease mechanism. 2. CRISPR-mediated knockout of NUP188 in Drosophila revealed motor deficits and seizure susceptibility, partially recapitulating the neurological phenotype seen in affected individuals. 3. Removal of NUP188 also resulted in aberrant dendrite tiling, suggesting a potential role of NUP188 in dendritic development Key clinical features of Sandestig-Stefanova syndrome MIM 618804: - congenital cataracts - hypotonia, - prenatal-onset ventriculomegaly, - white-matter abnormalities, - hypoplastic corpus callosum, - congenital heart defects, and - central hypoventilation. Characteristic dysmorphic features include: - small palpebral fissures, - a wide nasal bridge and nose, - micrognathia, and - digital anomalies. Sources: Literature |
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