Activity
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7 actions
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| Genetic Epilepsy v0.1950 | WNK3 | Zornitza Stark Phenotypes for gene: WNK3 were changed from Neurodevelopmental disorder, WNK3-related (MONDO#0700092) to Prieto syndrome, MIM# 309610 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1949 | WNK3 | Zornitza Stark edited their review of gene: WNK3: Changed phenotypes: Prieto syndrome, MIM# 309610 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1631 | WNK3 | Zornitza Stark Marked gene: WNK3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1631 | WNK3 | Zornitza Stark Gene: wnk3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1631 | WNK3 | Zornitza Stark Classified gene: WNK3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1631 | WNK3 | Zornitza Stark Gene: wnk3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1630 | WNK3 |
Lucy Spencer gene: WNK3 was added gene: WNK3 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: WNK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: WNK3 were set to 35678782 Phenotypes for gene: WNK3 were set to Neurodevelopmental disorder, WNK3-related (MONDO#0700092) Review for gene: WNK3 was set to GREEN Added comment: 6 maternally inherited hemizygous variants, 3 missense and 3 LOF. Seen in 14 individuals from 6 families. The variants cosegregated with disease in 3 families with multiple affected individuals. Phenotype described as intellectual disability, with the variable presence of seizures and structural brain defects. One family previously had a clinical diagnosis of X-linked Prieto syndrome. Sources: Literature |
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