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| BabyScreen+ newborn screening v0.2104 | TMEM38B | Zornitza Stark Marked gene: TMEM38B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2104 | TMEM38B | Zornitza Stark Gene: tmem38b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2104 | TMEM38B | Zornitza Stark Classified gene: TMEM38B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2104 | TMEM38B | Zornitza Stark Gene: tmem38b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2103 | TMEM38B |
Zornitza Stark Tag treatable tag was added to gene: TMEM38B. Tag skeletal tag was added to gene: TMEM38B. |
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| BabyScreen+ newborn screening v0.2103 | TMEM38B |
Zornitza Stark gene: TMEM38B was added gene: TMEM38B was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: TMEM38B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM38B were set to 23054245; 28323974 Phenotypes for gene: TMEM38B were set to Osteogenesis imperfecta, type XIV , MIM#615066 Review for gene: TMEM38B was set to GREEN Added comment: More than 10 families reported. Variable severity, onset of fractures generally in infancy. Treatment: bisphosphanates; improvement in BMD reported. Non-genetic confirmatory testing: skeletal survey. Sources: Expert list |
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