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| Fetal anomalies v0.225 | CACNA1E | Rebecca Foulger edited their review of gene: CACNA1E: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 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: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.197 | CACNA1E | Rebecca Foulger commented on gene: CACNA1E: Added watchlist tag to reflect multiple Disease confidence ratings in DD-G2P for different disorders: Rated confirmed for Developmental and Epileptic Encephalopathy with Contractures Macrocephaly and Dyskinesias. Rated probable for Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.197 | CACNA1E | Rebecca Foulger Tag watchlist tag was added to gene: CACNA1E. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.193 | CACNA1E | Rebecca Foulger reviewed gene: CACNA1E: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.192 | CACNA1E |
Rebecca Foulger gene: CACNA1E was added gene: CACNA1E was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: CACNA1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CACNA1E were set to 30849329 Phenotypes for gene: CACNA1E were set to Developmental and Epileptic Encephalopathy with Contractures Macrocephaly and Dyskinesias; Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia Mode of pathogenicity for gene: CACNA1E was set to Other - please provide details in the comments |
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