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Genetic Epilepsy v0.1350 MAP1B Zornitza Stark Marked gene: MAP1B as ready
Genetic Epilepsy v0.1350 MAP1B Zornitza Stark Gene: map1b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1350 MAP1B Zornitza Stark Phenotypes for gene: MAP1B were changed from febrile, fever-triggered and afebrile seizures to Intellectual disability; seizures; PVNH; dysmorphic features; Periventricular nodular heterotopia 9, MIM# 618918
Genetic Epilepsy v0.1349 MAP1B Zornitza Stark Classified gene: MAP1B as Green List (high evidence)
Genetic Epilepsy v0.1349 MAP1B Zornitza Stark Gene: map1b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1348 MAP1B Zornitza Stark reviewed gene: MAP1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 31317654, 30150678, 30214071, 33772511; Phenotypes: Intellectual disability, seizures, PVNH, dysmorphic features, Periventricular nodular heterotopia 9, MIM# 618918; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1322 MAP1B Ain Roesley gene: MAP1B was added
gene: MAP1B was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: MAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAP1B were set to 33772511
Phenotypes for gene: MAP1B were set to febrile, fever-triggered and afebrile seizures
Penetrance for gene: MAP1B were set to unknown
Review for gene: MAP1B was set to RED
Added comment: 4 affected family members had various combinations of: febrile, fever-triggered and afebrile seizures; photo-sensitivity; comorbid mild developmental delays; obsessive-compulsive behaviors; and poor attention span.
childhood onset, heterozygous fs variant
Sources: Literature