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| Fetal anomalies v0.3922 | SCN1B | Zornitza Stark Marked gene: SCN1B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3922 | SCN1B | Zornitza Stark Gene: scn1b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3922 | SCN1B | Zornitza Stark Phenotypes for gene: SCN1B were changed from EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 1; BRUGADA SYNDROME 5 to Epileptic encephalopathy, early infantile, 52, MIM#617350; Atrial fibrillation, familial, 13, MIM# 615377 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3921 | SCN1B | Zornitza Stark Mode of inheritance for gene: SCN1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3920 | SCN1B |
Zornitza Stark changed review comment from: Note heterozygous variants linked to cardiac phenotypes and to GEFS+. Bi-allelic variants cause EE/ID.; to: Note heterozygous variants linked to cardiac phenotypes and to GEFS+. Bi-allelic variants cause EE/ID. Clinical presentation is typically post-natal. |
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| Fetal anomalies v0.3920 | SCN1B | Zornitza Stark edited their review of gene: SCN1B: Changed phenotypes: Epileptic encephalopathy, early infantile, 52, MIM#617350, Atrial fibrillation, familial, 13, MIM# 615377 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3920 | SCN1B | Zornitza Stark edited their review of gene: SCN1B: Changed rating: RED; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | SCN1B |
Zornitza Stark gene: SCN1B was added gene: SCN1B was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SCN1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SCN1B were set to EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 1; BRUGADA SYNDROME 5 |
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