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| BabyScreen+ newborn screening v1.114 | FGF23 | Tommy Li Added phenotypes familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0100251; autosomal dominant hypophosphatemic rickets MONDO:0008660 for gene: FGF23 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1698 | FGF23 | Zornitza Stark Marked gene: FGF23 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1698 | FGF23 | Zornitza Stark Gene: fgf23 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1698 | FGF23 | Zornitza Stark Classified gene: FGF23 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1698 | FGF23 | Zornitza Stark Gene: fgf23 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1697 | FGF23 |
Zornitza Stark Tag treatable tag was added to gene: FGF23. Tag endocrine tag was added to gene: FGF23. |
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| BabyScreen+ newborn screening v0.1697 | FGF23 |
Zornitza Stark gene: FGF23 was added gene: FGF23 was added to gNBS. Sources: Expert list Mode of inheritance for gene: FGF23 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: FGF23 were set to autosomal dominant hypophosphatemic rickets MONDO:0008660; familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0100251 Review for gene: FGF23 was set to GREEN Added comment: Mono-allelic GoF variants are associated with hypophosphataemic rickets. Onset in some is in infancy (others adolescence). Treatment: phosphate supplementation and calcitriol Non-genetic confirmatory testing: serum phosphate, calcium, PTH, alkaline phosphatase levels, urine calcium level Bi-allelic LoF variants are associated with tumoral calcinosis. Age of onset and severity are variable, but include early childhood. Treatment: dietary restriction, antacids, phosphate binders, acetazolamide, hemodialysis Non-genetic confirmatory testing: serum phosphate, calcium, PTH, alkaline phosphatase, vitamin D serum levels, urine calcium, phosphate levels, plasma levels of the C-terminal portion of the phosphate-regulating hormone, fibroblast growth factor 23 Sources: Expert list |
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