| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Calcium and Phosphate disorders v1.9 | FGFR1 | Bryony Thompson Marked gene: FGFR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v1.9 | FGFR1 | Bryony Thompson Gene: fgfr1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v1.9 | FGFR1 | Bryony Thompson Classified gene: FGFR1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v1.9 | FGFR1 | Bryony Thompson Gene: fgfr1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v1.8 | FGFR1 |
Bryony Thompson gene: FGFR1 was added gene: FGFR1 was added to Calcium and Phosphate disorders. Sources: Other Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FGFR1 were set to 35738466; 36999651; 29147600; 26839958 Phenotypes for gene: FGFR1 were set to osteoglophonic dwarfism MONDO:0008150 Review for gene: FGFR1 was set to AMBER gene: FGFR1 was marked as current diagnostic Added comment: PMID: 35738466 - 1 case with vitamin dependent rickets & osteoglophonic dysplasia PMID: 36999651 - 1 missense (VUS) in a case with hypophosphataemia PMID: 29147600 - 1 case with Osteoglophonic dysplasia including hypophosphataemia, with c.1115G > A [p.(Cys372Tyr)] PMID: 26839958 - mouse model demonstrates role for Fgrf1 in phosphate transport Sources: Other |
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