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| Fetal anomalies v0.532 | CNTNAP2 | Zornitza Stark changed review comment from: More than 10 unrelated families reported, with a Pitt-Hopkins like syndrome.; to: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.532 | CNTNAP2 | Zornitza Stark Marked gene: CNTNAP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.532 | CNTNAP2 | Zornitza Stark Gene: cntnap2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.532 | CNTNAP2 | Zornitza Stark Phenotypes for gene: CNTNAP2 were changed from CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME to Cortical dysplasia-focal epilepsy syndrome, MIM# 610042 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.531 | CNTNAP2 | Zornitza Stark Publications for gene: CNTNAP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.530 | CNTNAP2 | Zornitza Stark reviewed gene: CNTNAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16571880, 19896112, 27439707]; Phenotypes: Cortical dysplasia-focal epilepsy syndrome, MIM# 610042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | CNTNAP2 |
Zornitza Stark gene: CNTNAP2 was added gene: CNTNAP2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: CNTNAP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CNTNAP2 were set to CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME |
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