| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v0.1095 | EBP | Zornitza Stark Marked gene: EBP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1095 | EBP | Zornitza Stark Gene: ebp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1095 | EBP | Zornitza Stark Phenotypes for gene: EBP were changed from CHONDRODYSPLASIA PUNCTATA 2, X-LINKED to Chondrodysplasia punctata, X-linked dominant MIM#302960; Conradi-Hunermann syndrome; MEND syndrome, MIM#300960 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | EBP |
Zornitza Stark gene: EBP was added gene: EBP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: EBP was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: EBP were set to CHONDRODYSPLASIA PUNCTATA 2, X-LINKED |
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