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| BabyScreen+ newborn screening v0.2045 | PLS3 | Zornitza Stark Marked gene: PLS3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2045 | PLS3 | Zornitza Stark Gene: pls3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2045 | PLS3 | Zornitza Stark Classified gene: PLS3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2045 | PLS3 | Zornitza Stark Gene: pls3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2044 | PLS3 |
Zornitza Stark Tag treatable tag was added to gene: PLS3. Tag skeletal tag was added to gene: PLS3. |
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| BabyScreen+ newborn screening v0.2044 | PLS3 |
Zornitza Stark gene: PLS3 was added gene: PLS3 was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: PLS3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PLS3 were set to 32655496; 25209159; 29736964; 29884797; 28777485; 24088043 Phenotypes for gene: PLS3 were set to Bone mineral density QTL18, osteoporosis - MIM#300910 Review for gene: PLS3 was set to GREEN Added comment: Females mildly affected: exclude from screening. Presentation in males similar to OI, though also variable in severity. Treatment: safe handling techniques, bisphosphonates, pamidronate, zoledronic acid, teriparatide, denosumab, alendronate Non-genetic confirmatory testing: skeletal survey Sources: Expert list |
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