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| BabyScreen+ newborn screening v1.114 | SPARC | Tommy Li Added phenotypes Osteogenesis imperfecta, type XVII, MIM# 616507 for gene: SPARC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2102 | SPARC | Zornitza Stark Marked gene: SPARC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2102 | SPARC | Zornitza Stark Gene: sparc has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2102 | SPARC |
Zornitza Stark gene: SPARC was added gene: SPARC was added to Baby Screen+ newborn screening. Sources: Expert list skeletal tags were added to gene: SPARC. Mode of inheritance for gene: SPARC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPARC were set to 26027498; 34462290 Phenotypes for gene: SPARC were set to Osteogenesis imperfecta, type XVII, MIM# 616507 Review for gene: SPARC was set to RED Added comment: Established gene-disease association, 5 families reported. Onset of fractures in infancy. Prominent neuromuscular features, MRI brain changes; some with ID. Treatment: bisphosphanates are generally used in OI but the case reports where these have been used do not seem terribly convincing in terms of response/improvement. Exclude for now. Sources: Expert list |
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