Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.53
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
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
Phenotypes
- Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 156510
- Cleidocranial dysplasia, forme fruste, with brachydactyly 119600
- Cleidocranial dysplasia, forme fruste, dental anomalies only 119600
- Cleidocranial dysplasia 119600
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Version 3.140
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
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Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 4.179
Latest signed off version: v4.0
(22 Mar 2023)
|
review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Green
- Expert list
Phenotypes
Tags
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.4
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 Removed
- Emory Genetics Laboratory
Phenotypes
- Disproportionate Short Stature
Tags
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Version 3.79
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
- CLEIDOCRANIAL DYSPLASIA 119600
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.499
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Cleidocranial dysplasia, 119600
- Cleidocranial dysplasia, forme
- fruste, with brachydactyly, 119600
- Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600
- Metaphyseal dysplasia with maxillary
- hypoplasia with or without brachydactyly, 156510
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Version 1.182
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, 156510
- Cleidocranial dysplasia, 119600
- Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600
- Cleidocranial dysplasia, forme fruste, with brachydactyly, 119600
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Version 1.1
Latest signed off version: v1.0
(14 Sep 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- NHS GMS
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