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| Fetal anomalies v0.677 | PRF1 | Zornitza Stark Marked gene: PRF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.677 | PRF1 | Zornitza Stark Gene: prf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.677 | PRF1 | Zornitza Stark Phenotypes for gene: PRF1 were changed from Aplastic anemia - #609135; Hemophagocytic lymphohistiocytosis, familial, 2 - #603553 to Aplastic anaemia - #609135; Haemophagocytic lymphohistiocytosis, familial, 2 - #603553 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.676 | PRF1 | Zornitza Stark Classified gene: PRF1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.676 | PRF1 | Zornitza Stark Gene: prf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.643 | PRF1 |
Krithika Murali gene: PRF1 was added gene: PRF1 was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRF1 were set to 19595804; 26199792; 30070073 Phenotypes for gene: PRF1 were set to Aplastic anemia - #609135; Hemophagocytic lymphohistiocytosis, familial, 2 - #603553 Review for gene: PRF1 was set to GREEN Added comment: Heeg et al report 12 patients presenting with FHLH2 in utero or in first 10 days of life from registry and publication data (these 12 genetically confirmed) PMID: 19595804 Vermulen et al report two siblings with homozygous PRF1 variants, first sib died in utero with hydrops and second sib presented in neonatal period PMID: 26199792 Iwatani et al report newborn infant with comp het PRF1 variants, and in utero ascites PMID: 30070073 Sources: Expert list, Literature |
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