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| Fetal anomalies v0.311 | BRAT1 | Rebecca Foulger edited their review of gene: BRAT1: Added comment: Upgraded from Amber to Green following advice from Anna de Burca (Genomics England clinical team). Probable rating in Gene2Phenotype for 'Rigidity and multifocal seizure syndrome, lethal neonatal' but sufficient cases in OMIM for inclusion. (e.g. Saunders et al., 2012, PMID:23035047). Although the main phenotypes are neurological, there are some structural features in some patients.; Changed rating: GREEN; Changed publications: 23035047 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.310 | BRAT1 |
Rebecca Foulger Source Expert Review Green was added to BRAT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v0.253 | BRAT1 | Rebecca Foulger Publications for gene: BRAT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | BRAT1 | Rebecca Foulger reviewed gene: BRAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | BRAT1 |
Rebecca Foulger gene: BRAT1 was added gene: BRAT1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: BRAT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BRAT1 were set to LETHAL NEONATAL RIGIDITY AND SEIZURE SYNDROME |
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