| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Osteogenesis Imperfecta and Osteoporosis v0.27 | NBAS | Zornitza Stark Marked gene: NBAS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis Imperfecta and Osteoporosis v0.27 | NBAS | Zornitza Stark Gene: nbas has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis Imperfecta and Osteoporosis v0.27 | NBAS | Zornitza Stark Phenotypes for gene: NBAS were changed from short stature; bone fragility; developmental delay; immunodeficiency; autism to short stature; bone fragility; developmental delay; immunodeficiency; autism; Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis Imperfecta and Osteoporosis v0.6 | NBAS | Bryony Thompson Classified gene: NBAS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis Imperfecta and Osteoporosis v0.6 | NBAS | Bryony Thompson Gene: nbas has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis Imperfecta and Osteoporosis v0.5 | NBAS |
Bryony Thompson gene: NBAS was added gene: NBAS was added to Osteogenesis Imperfecta. Sources: NHS GMS Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NBAS were set to 27789416; 29955634 Phenotypes for gene: NBAS were set to short stature; bone fragility; developmental delay; immunodeficiency; autism Review for gene: NBAS was set to GREEN Added comment: Three compound heterozygous cases with an OI multi-system phenotype. Sources: NHS GMS |
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