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| BabyScreen+ newborn screening v1.114 | KDELR2 | Tommy Li Added phenotypes Osteogenesis imperfecta 21, MIM# 619131 for gene: KDELR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2087 | KDELR2 | Zornitza Stark Marked gene: KDELR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2087 | KDELR2 | Zornitza Stark Gene: kdelr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2087 | KDELR2 | Zornitza Stark Classified gene: KDELR2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2087 | KDELR2 | Zornitza Stark Gene: kdelr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2086 | KDELR2 |
Zornitza Stark gene: KDELR2 was added gene: KDELR2 was added to Baby Screen+ newborn screening. Sources: Expert list treatable, skeletal tags were added to gene: KDELR2. Mode of inheritance for gene: KDELR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KDELR2 were set to Osteogenesis imperfecta 21, MIM# 619131 Review for gene: KDELR2 was set to GREEN Added comment: 4 families with osteogenesis imperfecta reported with functional studies. Onset in infancy. Improvement reported with bisphosphanates, similar to other OI. Non-genetic confirmatory testing: skeletal survey. Sources: Expert list |
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