Level 2: Viral research
Version 1.141
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- IUIS Classification December 2019
- IUIS Classification February 2018
- IUIS Classification December 2019
- IUIS Classification February 2018
Phenotypes
- Osteopetrosis
- Defects in intrinsic and innate immunity
- Defects in Intrinsic and Innate Immunity
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Version 4.201
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
- IUIS Classification December 2019
- Expert Review Red
- IUIS Classification February 2018
Phenotypes
- Osteopetrosis
- Defects in Intrinsic and Innate Immunity
- Defects in intrinsic and innate immunity
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.56
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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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- NHS GMS
- Expert list
- Radboud University Medical Center, Nijmegen
- UKGTN
Phenotypes
- Osteopetrosis, autosomal recessive 6 - 611497
- Osteopetrosis, autosomal recessive 6 611497
- Osteopetrosis, autosomal dominant 3 - 618107
Tags
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.34
Latest signed off version: v1.1
(21 Sep 2020)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- NHS GMS
Phenotypes
- ?Osteopetrosis, autosomal recessive 6 OMIM:611497
- Osteopetrosis, autosomal dominant 3 OMIM:618107
Tags
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