| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Intellectual disability syndromic and non-syndromic v0.1530 | NUP214 | Zornitza Stark Marked gene: NUP214 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1530 | NUP214 | Zornitza Stark Added comment: Comment when marking as ready: Three unrelated families reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1530 | NUP214 | Zornitza Stark Gene: nup214 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1530 | NUP214 | Zornitza Stark Publications for gene: NUP214 were set to 31178128 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1526 | NUP214 | Zornitza Stark Phenotypes for gene: NUP214 were changed from epileptic encephalopathy; developmental regression; microcephaly to {Encephalopathy, acute, infection-induced, susceptibility to, 9}, MIM# 618426; epileptic encephalopathy; developmental regression; microcephaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1525 | NUP214 | Sue White Marked gene: NUP214 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1525 | NUP214 | Sue White Gene: nup214 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1525 | NUP214 | Sue White Classified gene: NUP214 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1525 | NUP214 | Sue White Gene: nup214 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1524 | NUP214 |
Sue White gene: NUP214 was added gene: NUP214 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature Mode of inheritance for gene: NUP214 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP214 were set to 31178128 Phenotypes for gene: NUP214 were set to epileptic encephalopathy; developmental regression; microcephaly Penetrance for gene: NUP214 were set to Complete Review for gene: NUP214 was set to GREEN gene: NUP214 was marked as current diagnostic Added comment: Sources: Literature |
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