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| Fetal anomalies v0.1315 | ERCC4 | Zornitza Stark Marked gene: ERCC4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1315 | ERCC4 | Zornitza Stark Gene: ercc4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1315 | ERCC4 | Zornitza Stark Phenotypes for gene: ERCC4 were changed from PRIMORDIAL DWARFISM; Xeroderma pigmentosum, group F, 278760; XERODERMA PIGMENTOSUM, GROUP F; XFE PROGEROID SYNDROME; FANCONI ANEMIA, COMPLEMENTATION GROUP Q to Fanconi anaemia, complementation group Q, MIM# 615272; MONDO:0014108; XFE progeroid syndrome, MIM# 610965 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1314 | ERCC4 | Zornitza Stark Publications for gene: ERCC4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1313 | ERCC4 | Zornitza Stark changed review comment from: Bi-allelic variants in this gene are associated with a range of phenotypes, including FA and radial ray defects.; to: Bi-allelic variants in this gene are associated with a range of phenotypes, including FA and radial ray defects, and XFE progeroid syndrome, with microcephaly a feature. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1313 | ERCC4 | Zornitza Stark edited their review of gene: ERCC4: Changed phenotypes: Fanconi aanemia, complementation group Q, MIM# 615272, MONDO:0014108, XFE progeroid syndrome, MIM# 610965 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ERCC4 |
Zornitza Stark gene: ERCC4 was added gene: ERCC4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC4 were set to PRIMORDIAL DWARFISM; Xeroderma pigmentosum, group F, 278760; XERODERMA PIGMENTOSUM, GROUP F; XFE PROGEROID SYNDROME; FANCONI ANEMIA, COMPLEMENTATION GROUP Q |
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