| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v0.4710 | BRF1 | Zornitza Stark Marked gene: BRF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4710 | BRF1 | Zornitza Stark Gene: brf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4710 | BRF1 | Zornitza Stark Classified gene: BRF1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4710 | BRF1 | Zornitza Stark Gene: brf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4707 | BRF1 |
Krithika Murali gene: BRF1 was added gene: BRF1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: BRF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BRF1 were set to 25561519; 25561519; 27748960 Phenotypes for gene: BRF1 were set to Cerebellofaciodental syndrome - MIM#616202 Review for gene: BRF1 was set to GREEN Added comment: Cerebellofaciodental syndrome is an autosomal recessive neurodevelopmental disorder characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia. At least 5 unrelated families and a zebrafish model. Sources: Literature |
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