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| Genetic Epilepsy v0.2094 | PPP1CB | Lisa Norbart reviewed gene: PPP1CB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome-like disorder with loose anagen hair 2 MIM#617506; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1304 | PPP1CB | Zornitza Stark Marked gene: PPP1CB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1304 | PPP1CB | Zornitza Stark Gene: ppp1cb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1304 | PPP1CB | Zornitza Stark Classified gene: PPP1CB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1304 | PPP1CB | Zornitza Stark Gene: ppp1cb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1297 | PPP1CB |
Ain Roesley gene: PPP1CB was added gene: PPP1CB was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PPP1CB were set to 33333793; 30236064 Phenotypes for gene: PPP1CB were set to Noonan syndrome-like disorder with loose anagen hair 2 MIM#617506 Penetrance for gene: PPP1CB were set to Complete Review for gene: PPP1CB was set to AMBER Added comment: PMID:33333793 1x de novo missense. Apnea, eye gazed deviation, myoclonic seizures PMID:30236064 1x de novo missense. infant presented with severe intractable epileptic spasms >20 individuals reported with this syndrome Sources: Literature |
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