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| Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.43 | CNTNAP2 | Zornitza Stark Marked gene: CNTNAP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.43 | CNTNAP2 | Zornitza Stark Gene: cntnap2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.43 | CNTNAP2 | Zornitza Stark Classified gene: CNTNAP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.43 | CNTNAP2 | Zornitza Stark Gene: cntnap2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.42 | CNTNAP2 |
Zornitza Stark gene: CNTNAP2 was added gene: CNTNAP2 was added to Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly. Sources: Expert Review Mode of inheritance for gene: CNTNAP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CNTNAP2 were set to 16571880; 19896112; 27439707 Phenotypes for gene: CNTNAP2 were set to Cortical dysplasia-focal epilepsy syndrome, MIM# 610042 Review for gene: CNTNAP2 was set to GREEN Added comment: More than 10 unrelated families reported, with a Pitt-Hopkins like syndrome. Typical clinical features include delayed psychomotor development, intellectual disability, severe speech impairment or regression, and behavioural abnormalities. Most patients have onset of seizures within the first years of life. Some patients may have cortical dysplasia on brain imaging. Sources: Expert Review |
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