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| Genetic Epilepsy v0.1342 | KCNH1 | Zornitza Stark Marked gene: KCNH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1342 | KCNH1 | Zornitza Stark Gene: kcnh1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1342 | KCNH1 | Zornitza Stark Phenotypes for gene: KCNH1 were changed from seizures; epilepsy; intellectual disability; hypotonia; skeletal abnormalities; nail abnormalities to Temple-Baraitser syndrome, OMIM:611816 Zimmermann-Laband syndrome 1, OMIM:135500 Intellectual disability Encephalopathy without features of TBS/ZLS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1341 | KCNH1 | Zornitza Stark Classified gene: KCNH1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1341 | KCNH1 | Zornitza Stark Gene: kcnh1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1340 | KCNH1 | Zornitza Stark reviewed gene: KCNH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Temple-Baraitser syndrome, OMIM:611816 Zimmermann-Laband syndrome 1, OMIM:135500 Intellectual disability Encephalopathy without features of TBS/ZLS; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1317 | KCNH1 |
Daniel Flanagan gene: KCNH1 was added gene: KCNH1 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: KCNH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNH1 were set to PMID: 33594261 Phenotypes for gene: KCNH1 were set to seizures; epilepsy; intellectual disability; hypotonia; skeletal abnormalities; nail abnormalities Added comment: 24/27 patients with KCNH1 variants have seizures/epilepsy. These patients also had intellectual disabilities, hypotonia, skeletal abnormalities and nail abnormalities. Sources: Literature |
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