| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v0.0 | COL1A2 |
Zornitza Stark gene: COL1A2 was added gene: COL1A2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,UKGTN,Expert,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: COL1A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: COL1A2 were set to Osteogenesis imperfecta, type III 259420; Osteogenesis imperfecta, type IV 166220; Ehlers-Danlos syndrome, type VIIB 130060; Ehlers-Danlos syndrome, cardiac valvular form 225320; Osteogenesis imperfecta, type II 166210 |
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