Version 0.36
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review
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Not set
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Sources
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
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BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert
Phenotypes
- {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, OMIM:615221
- Osteogenesis imperfecta, type XV, OMIM:615220
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Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- Osteogenesis imperfecta, type XV, OMIM:615220
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.5
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert
Phenotypes
- Osteogenesis imperfecta, type XV, OMIM:615220
- {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, OMIM:615221
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Osteogenesis imperfecta, type XV, 615220
- {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221
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Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Osteogenesis imperfecta, type XV, 615220
|