| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v0.4211 | SEMA3E | Zornitza Stark Marked gene: SEMA3E as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4211 | SEMA3E | Zornitza Stark Gene: sema3e has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4211 | SEMA3E | Zornitza Stark Phenotypes for gene: SEMA3E were changed from ?CHARGE syndrome - MIM#214800 to CHARGE syndrome - MIM#214800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4210 | SEMA3E | Zornitza Stark Classified gene: SEMA3E as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4210 | SEMA3E | Zornitza Stark Gene: sema3e has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4192 | SEMA3E |
Krithika Murali gene: SEMA3E was added gene: SEMA3E was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SEMA3E was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SEMA3E were set to 31691538; 31464029; 15235037 Phenotypes for gene: SEMA3E were set to ?CHARGE syndrome - MIM#214800 Review for gene: SEMA3E was set to AMBER Added comment: Heterozygous variant identified in a fetus given a clinical diagnosis of CHARGE syndrome. One individual with a translocation and one individual with a missense variant reported in 2004; some functional data. Sources: Literature |
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