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 February 2018
- IUIS Classification December 2019
- London North GLH
- NHS GMS
- North West GLH
- IUIS Classification December 2019
- North West GLH
- London North GLH
- NHS GMS
- IUIS Classification February 2018
Phenotypes
- Osteopetrosis
- Defects in intrinsic and innate immunity
- Defects in Intrinsic and Innate Immunity
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Version 4.4
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
- Expert Review Green
- Expert list
Phenotypes
- Osteopetrosis, autosomal recessive 7, OMIM:612301
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Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 4.18
Latest signed off version: v4.0
(22 Mar 2023)
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review
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Not set
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Sources
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Version 4.202
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- IUIS Classification December 2019
- Expert Review Amber
- North West GLH
- London North GLH
- NHS GMS
- IUIS Classification February 2018
Phenotypes
- Osteopetrosis
- Defects in Intrinsic and Innate Immunity
- Defects in intrinsic and innate immunity
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Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.25
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Red
- Expert list
Phenotypes
- Paget disease of bone
- Polyostotic osteolytic dysplasia (hereditary expansile)
- Osteosarcoma
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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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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- NHS GMS
- Expert Review Green
- Emory Genetics Laboratory
Phenotypes
- Osteolysis, familial expansile 174810
- Osteopetrosis, autosomal recessive 7 612301
- Paget disease of bone 2, early-onset 602080
Tags
- for-review
- to_be_confirmed_NHSE
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.5
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
Not set
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Sources
- Expert Review Red
- Emory Genetics Laboratory
Phenotypes
- Osteogenesis Imperfecta and Decreased Bone Density
- skeletal dysplasias
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Version 1.81
Latest signed off version: v1.2
(18 Feb 2020)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- NHS GMS
- Expert Review Red
- Expert Review Red
- Expert list
Phenotypes
- {Paget disease of bone 2, early-onset}, OMIM:602080
- Osteosarcoma (disease), MONDO:0009807
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Version 1.184
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Osteolysis, familial expansile, 174810
- Osteopetrosis, autosomal recessive 7, 612301
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.34
Latest signed off version: v1.1
(21 Sep 2020)
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
Phenotypes
- {Paget disease of bone 2, early-onset} OMIM:602080
- Osteopetrosis, autosomal recessive 7 OMIM:612301
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