| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Lissencephaly and Band Heterotopia v0.63 | NSDHL | Zornitza Stark Marked gene: NSDHL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.63 | NSDHL | Zornitza Stark Gene: nsdhl has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.63 | NSDHL | Zornitza Stark Classified gene: NSDHL as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.63 | NSDHL | Zornitza Stark Gene: nsdhl has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.60 | NSDHL |
Belinda Chong gene: NSDHL was added gene: NSDHL was added to Lissencephaly and Band Heterotopia. Sources: Literature Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: NSDHL were set to 19377476; 19842190; 21129721 Phenotypes for gene: NSDHL were set to CK syndrome 300831 Review for gene: NSDHL was set to AMBER gene: NSDHL was marked as current diagnostic Added comment: First described in 7 males from a five-generation family, 1-bp duplication p.(Lys232del) reported by Tarpey et al. (2009). PMID:19377476. Second affected family, p.(Arg367SerFs*33) reported by Tarpey et al. (2009) and McLarren et al. (2010) (PMID:19842190; 21129721). Functional studies showed that both mutations in these families result in partial loss of the function of the NSDHL protein and cause a distinct phenotype characterized by intellectual disability, seizures, microcephaly, cerebral cortical malformations, minor facial anomalies, and thin body habitus. Third described in five- generation family (missense -p.Gly152Asp) with affected males manifesting clinical features of CK syndrome. (https://doi.org/10.1002/ajmg.a.36999). Clinical feature described in the paper similar to CK syndrome however, no mention of cortical malformation, pachygyria, polymicrogyria, features mentioned in OMIM. But one affected male has a CT scan showing atrophic changes in the brain, internal hydrocephalus, and possible subependymal gray matter heterotopia. NB: Therefore, unsure if this is the third family hence leaving as Amber. Sources: Literature |
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