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| Genetic Epilepsy v0.1249 | TMTC3 | Zornitza Stark Marked gene: TMTC3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1249 | TMTC3 | Zornitza Stark Gene: tmtc3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1249 | TMTC3 | Zornitza Stark Phenotypes for gene: TMTC3 were changed from Lissencephaly 8 MIM#617255 to Lissencephaly 8, MIM#617255 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1248 | TMTC3 | Zornitza Stark Classified gene: TMTC3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1248 | TMTC3 | Zornitza Stark Gene: tmtc3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1245 | TMTC3 |
Danielle Ariti gene: TMTC3 was added gene: TMTC3 was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: TMTC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMTC3 were set to 27773428; 28973161; 32973946 Phenotypes for gene: TMTC3 were set to Lissencephaly 8 MIM#617255 Review for gene: TMTC3 was set to GREEN Added comment: 14 individuals from 8 unrelated families reported with bi-allelic LoF (frameshift, deletion, insertion) and missense variants. Lissencephaly-8 is a neurologic disorder characterised by delayed psychomotor development, ID with poor/absent speech, early-onset refractory seizures, hypotonia and appendicular spasticity. Seizures are considered a prominent phenotype: 6/9 patients developed refractory generalised or myoclonic seizures in infancy (PMID: 27773428) and in a reported family all four affected siblings presented with nocturnal seizures and ID (PMID: 28973161). Sources: Expert list |
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