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| Fetal anomalies v0.311 | SCN2A | Rebecca Foulger edited their review of gene: SCN2A: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team). Outcome of review: 2 reports of cortical malformations, one with ventriculomegaly: PMID:31204721,28254201. no reports of arthrogryposis. Plus finding in Petrovski et al., 2019 (PMID:30712878).; Changed rating: GREEN; Changed publications: 31204721, 28254201 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.310 | SCN2A |
Rebecca Foulger Source Expert Review Green was added to SCN2A. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Fetal anomalies v0.181 | SCN2A | Rebecca Foulger Publications for gene: SCN2A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.180 | SCN2A | Rebecca Foulger commented on gene: SCN2A: Additional evidence from PMID:30712878: De novo variant identified in SCN2A from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.165 | SCN2A |
Rebecca Foulger Source Expert Review Red was added to SCN2A. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.161 | SCN2A | Rebecca Foulger edited their review of gene: SCN2A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SCN2A gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | SCN2A | Rebecca Foulger commented on gene: SCN2A: DDG2P rating in original PAGE list: Confirmed for NONSPECIFIC SEVERE ID, Confirmed for BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES and Confirmed for INFANTILE EPILEPTIC ENCEPHALOPATHY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | SCN2A | Rebecca Foulger reviewed gene: SCN2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | SCN2A | Rebecca Foulger Added phenotypes INFANTILE EPILEPTIC ENCEPHALOPATHY for gene: SCN2A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | SCN2A | Rebecca Foulger Added phenotypes BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES for gene: SCN2A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | SCN2A |
Rebecca Foulger gene: SCN2A was added gene: SCN2A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SCN2A were set to NONSPECIFIC SEVERE ID |
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