Activity
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5 actions
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| Regression v0.557 | LNPK | Zornitza Stark Marked gene: LNPK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.557 | LNPK | Zornitza Stark Gene: lnpk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.557 | LNPK | Zornitza Stark Classified gene: LNPK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.557 | LNPK | Zornitza Stark Gene: lnpk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.533 | LNPK |
Lilian Downie gene: LNPK was added gene: LNPK was added to Regression. Sources: Literature Mode of inheritance for gene: LNPK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LNPK were set to PMID: 35599435, https://academic.oup.com/braincomms/advance-article/doi/10.1093/braincomms/fcad222/7243438?login=true Phenotypes for gene: LNPK were set to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum MIM#618090 Review for gene: LNPK was set to GREEN Added comment: Moderate to severe ID, majority of patients 10/15 have period of regression Epilepsy (myoclonic frequently) Structural brain anomalies 'ear of the lynx sign', callosal hypoplasia, mild brain including cerebellar atrophy. Microcephaly, macrocephaly and normal head circumference described. Sources: Literature |
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