Version 1.12
Latest signed off version: v1.5
(11 Nov 2020)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Hypertrophic osteoarthropathy, primary, autosomal recessive 1 OMIM:259100
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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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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Cranioosteoarthropathy 259100
- Digital clubbing, isolated congenital 119900
- Hypertrophic osteoarthropathy, primary, autosomal recessive 1 259100
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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 Red
- PAGE DD-Gene2Phenotype
Phenotypes
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Version 3.90
Latest signed off version: v3.1
(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
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- CRANIOOSTEOARTHROPATHY 259100
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.550
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Cranioosteoarthropathy, 259100
- Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100
- Digital clubbing, isolated congenital, 119900
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Version 1.184
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100
- Cranioosteoarthropathy, 259100
- Digital clubbing, isolated congenital, 119900
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