Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.65
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Illumina TruGenome Clinical Sequencing Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert
Phenotypes
- Osteogenesis imperfecta, type VI, 613982
- osteogenesis imperfecta
- OI/osteoporosis
- Osteogenesis Imperfecta, Recessive
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Version 3.169
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert list
Phenotypes
- Osteogenesis imperfecta, type VI, OMIM:613982
- Osteogenesis imperfecta type 6, MONDO:0013515
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.5
Latest signed off version: v4.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert
Phenotypes
- Osteogenesis imperfecta, type VI, 613982
- Osteogenesis Imperfecta, Recessive
- osteogenesis imperfecta
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Version 1.184
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Osteogenesis imperfecta, type VI, 613982
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