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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