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| Genetic Epilepsy v1.320 | PPP1R3F | Zornitza Stark Classified gene: PPP1R3F as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.320 | PPP1R3F | Zornitza Stark Gene: ppp1r3f has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.318 | PPP1R3F | Paul De Fazio reviewed gene: PPP1R3F: Rating: AMBER; Mode of pathogenicity: None; Publications: 37531237; Phenotypes: Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1911 | PPP1R3F | Zornitza Stark Marked gene: PPP1R3F as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1911 | PPP1R3F | Zornitza Stark Gene: ppp1r3f has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1911 | PPP1R3F | Zornitza Stark Classified gene: PPP1R3F as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1911 | PPP1R3F | Zornitza Stark Gene: ppp1r3f has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1910 | PPP1R3F |
Andrew Fennell gene: PPP1R3F was added gene: PPP1R3F was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: PPP1R3F was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PPP1R3F were set to 37531237 Phenotypes for gene: PPP1R3F were set to Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related Review for gene: PPP1R3F was set to GREEN Added comment: 13 unrelated hemizygous individuals with a neurodevelopmental disorder were reported, with functional evidence. 6/13 (46%) were reported with heterogeneous seizure types including generalized, nocturnal, tonic, atonic, focal, myoclonic, and atypical absence. Sources: Literature |
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