Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.6
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- Eligibility statement prior genetic testing
- Expert
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- multiple epiphyseal dysplasia, pseudoachondroplasia
- Multiple Epiphyseal Dysplasia, Dominant
- Epiphyseal dysplasia, multiple, 1
Tags
- nucleotide-repeat-expansion
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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
|
review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Green
- Emory Genetics Laboratory
- Eligibility statement prior genetic testing
- Expert
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Epiphyseal dysplasia, multiple, 1 132400
- Pseudoachondroplasia 177170
Tags
- nucleotide-repeat-expansion
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Version 3.164
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- ARE THE CAUSE OF PSEUDOACHONDROPLASIA
- MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1
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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 Removed
- Emory Genetics Laboratory
Phenotypes
- Disproportionate Short Stature
Tags
|
Version 3.88
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
- Expert Review Red
- DD-Gene2Phenotype
Phenotypes
- MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1, OMIM:132400
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
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, imprinted status unknown
|
Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Pseudoachondroplasia, 177170
- Epiphyseal dysplasia, multiple 1, 132400
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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
- Pseudoachondroplasia, 177170
- Epiphyseal dysplasia, multiple, 1, 132400
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