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| Fetal anomalies v1.197 | THSD1 |
Zornitza Stark gene: THSD1 was added gene: THSD1 was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: THSD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: THSD1 were set to 33569873; 27895300 Phenotypes for gene: THSD1 were set to Lymphatic malformation 13, MIM# 620244 Review for gene: THSD1 was set to GREEN Added comment: PMID: 33569873 - 1 fetus with a homozygous PTC and nonimmune hydrops fetalis (NIHF), congenital heart disease and hemangiomas. FHx of 1/3 triplets with severe hydrops fetalis, not sequenced. - Paper reviews previous NIHF cases and reports another homozygous PTC in two families ( and a recurring homozygous missense (p.Cys206Tyr) in three families. PMID: 27895300- Mouse model has hydrocephaly with poor perfusion. Sources: Expert Review |
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| Fetal anomalies v0.1741 | Zornitza Stark removed gene:FHL1 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1598 | FH | Zornitza Stark Marked gene: FH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1598 | FH | Zornitza Stark Gene: fh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1598 | FH | Zornitza Stark Phenotypes for gene: FH were changed from FUMARASE DEFICIENCY to Fumarase deficiency, MIM# 606812 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1597 | FH | Zornitza Stark Publications for gene: FH were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1596 | FH |
Zornitza Stark changed review comment from: Listed as a cause of non-immune hydrops in a review, but cannot find reported cases. Sources: Expert list; to: Listed as a cause of non-immune hydrops in a review, but cannot find reported cases. Polymicrogyria and CC abnormalities reported. Sources: Expert list |
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| Fetal anomalies v0.1596 | FH | Zornitza Stark edited their review of gene: FH: Changed rating: GREEN; Changed phenotypes: Fumarase deficiency, MIM# 606812 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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| Fetal anomalies v0.0 | FHL1 |
Zornitza Stark gene: FHL1 was added gene: FHL1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FHL1 were set to EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED |
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| Fetal anomalies v0.0 | FH |
Zornitza Stark gene: FH was added gene: FH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FH were set to FUMARASE DEFICIENCY |
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