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Genetic Epilepsy v0.2801 | KIF4A | Zornitza Stark Marked gene: KIF4A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.2801 | KIF4A | Zornitza Stark Gene: kif4a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.2158 | KIF4A | Elena Savva Publications for gene: KIF4A were set to 24812067; 34346154 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.2158 | KIF4A | Elena Savva Classified gene: KIF4A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.2158 | KIF4A | Elena Savva Gene: kif4a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.2157 | KIF4A | Elena Savva reviewed gene: KIF4A: Rating: ; Mode of pathogenicity: None; Publications: PMID: 36482480, 24812067, 34346154; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.2157 | KIF4A | Elena Savva Phenotypes for gene: KIF4A were changed from Mental retardation, X-linked 100, MIM# 300923 to Intellectual developmental disorder, X-linked 100 MIM#300923 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genetic Epilepsy v0.1196 | KIF4A |
Zornitza Stark gene: KIF4A was added gene: KIF4A was added to Genetic Epilepsy. Sources: Expert Review Mode of inheritance for gene: KIF4A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: KIF4A were set to 24812067; 34346154 Phenotypes for gene: KIF4A were set to Mental retardation, X-linked 100, MIM# 300923 Review for gene: KIF4A was set to AMBER Added comment: 12 families reported. Major structural brain abnormalities present in at least 3 (hydrocephalus), variable ID in several. At least 3 reported as having seizures, though variable severity (including febrile Sz in one). Sources: Expert Review |