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| Hydrops fetalis v0.120 | FH | Zornitza Stark Marked gene: FH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.120 | FH | Zornitza Stark Gene: fh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.120 | FH |
Zornitza Stark gene: FH was added gene: FH was added to Hydrops fetalis. Sources: Expert list Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FH were set to 23137060 Phenotypes for gene: FH were set to Fumarase deficiency, MIM# 606812 Review for gene: FH was set to RED Added comment: Listed as a cause of non-immune hydrops in a review, but cannot find reported cases. Sources: Expert list |
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| Hydrops fetalis v0.112 | PRF1 |
Tegan French gene: PRF1 was added gene: PRF1 was added to Hydrops fetalis. Sources: Other Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRF1 were set to PMID: 19595804; 26199792; 30070073 Phenotypes for gene: PRF1 were set to Aplastic anemia; Hemophagocytic lymphohistiocytosis, familial, 2 AR; Lymphoma, non-Hodgkin Penetrance for gene: PRF1 were set to Complete 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: Other |
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