| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v0.1317 | ERCC5 | Zornitza Stark Marked gene: ERCC5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1317 | ERCC5 | Zornitza Stark Gene: ercc5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1317 | ERCC5 | Zornitza Stark Phenotypes for gene: ERCC5 were changed from Cerebrooculofacioskeletal syndrome 3, OMIM:616570; Cerebrooculofacioskeletal syndrome 3, MONDO:0014696 to Cerebrooculofacioskeletal syndrome 3, MIM# 616570; MONDO:0014696; Xeroderma pigmentosum, group G, MIM# 278780; MONDO:0010216 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1316 | ERCC5 | Zornitza Stark Publications for gene: ERCC5 were set to 24700531; 32557569; 32052936 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1315 | ERCC5 | Zornitza Stark changed review comment from: Well established gene-disease association, spectrum of severity, with COFS having significant ID, and some patients with XPE having a phenotype that overlaps Cockayne syndrome.; to: Well established gene-disease association, spectrum of severity, with COFS having significant IUGR, and some patients with XPE having a phenotype that overlaps Cockayne syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ERCC5 |
Zornitza Stark gene: ERCC5 was added gene: ERCC5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC5 were set to 24700531; 32557569; 32052936 Phenotypes for gene: ERCC5 were set to Cerebrooculofacioskeletal syndrome 3, OMIM:616570; Cerebrooculofacioskeletal syndrome 3, MONDO:0014696 |
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