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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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- NHS GMS
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
Phenotypes
- Chondrocalcinosis 2 118600
- Craniometaphyseal dysplasia 123000
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Version 3.155
Latest signed off version: v3.0
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- CHONDROCALCINOSIS 2
- CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE
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Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 4.179
Latest signed off version: v4.0
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Amber
- Literature
Phenotypes
- Craniometaphyseal dysplasia, OMIM:123000
- craniosynostosis, MONDO:0015469
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.5
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
- Expert Review Red
- Emory Genetics Laboratory
Phenotypes
- Osteogenesis Imperfecta and Decreased Bone Density
- skeletal dysplasias
- Disproportionate Short Stature
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Version 3.87
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- CHONDROCALCINOSIS 2 118600
- CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE 123000
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.531
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- Craniometaphyseal dysplasia, 123000Chondrocalcinosis 2, 118600
- CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE (CMDJ)
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Version 1.184
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Craniometaphyseal dysplasia, 123000
- Chondrocalcinosis 2, 118600
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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
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Chondrocalcinosis 2 OMIM:118600
- Craniometaphyseal dysplasia OMIM:123000
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