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| Skeletal dysplasia v0.0 | BANF1 |
Zornitza Stark gene: BANF1 was added gene: BANF1 was added to Skeletal dysplasia. Sources: Expert Review Red,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: BANF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BANF1 were set to Nestor-Guillermo progeria syndrome 614008 |
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| Skeletal dysplasia v0.0 | SERPINF1 |
Zornitza Stark gene: SERPINF1 was added gene: SERPINF1 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,Expert,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: SERPINF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SERPINF1 were set to OI/osteoporosis; osteogenesis imperfecta; Osteogenesis Imperfecta, Recessive; Osteogenesis imperfecta, type VI, 613982 |
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| Skeletal dysplasia v0.0 | NF1 |
Zornitza Stark gene: NF1 was added gene: NF1 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NF1 were set to Neurofibromatosis-Noonan syndrome 601321; Neurofibromatosis, type 1 162200; Neurofibromatosis, type 1 162200; Neurofibromatosis, familial spinal 162210; Neurofibromatosis-Noonan syndrome 601321; Neurofibromatosis, familial spinal 162210 |
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