Level 2: Viral research
Version 1.142
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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 with severe growth retardation
- Defects in intrinsic and innate immunity
- Defects in Intrinsic and Innate Immunity
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Version 4.202
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
- IUIS Classification February 2018
Phenotypes
- Defects in Intrinsic and Innate Immunity
- Osteopetrosis with severe growth retardation
- Defects in intrinsic and innate immunity
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.63
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
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Emory Genetics Laboratory
- UKGTN
- Radboud University Medical Center, Nijmegen
Phenotypes
- Osteopetrosis, autosomal recessive 2 259710
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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
- Osteopetrosis, autosomal recessive 2, 259710
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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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Osteopetrosis, autosomal recessive 2 OMIM:259710
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