Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.6
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- multiple epiphyseal dysplasia
- Multiple Epiphyseal Dysplasia, Recessive
- Epiphyseal dysplasia, multiple, 4
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Version 4.18
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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Other
Phenotypes
- Diastrophic dysplasia, broad bone-platyspondylic variant
- Diastrophic dysplasia
- Epiphyseal dysplasia, multiple, 4
- Atelosteogenesis, type II
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.54
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
Phenotypes
- ACG1B,DD,rMED
- multiple epiphyseal dysplasia
- Multiple Epiphyseal Dysplasia, Recessive
- Epiphyseal dysplasia, multiple, 4
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Version 3.146
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
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4
- ACHONDROGENESIS TYPE 1B
- ATELOSTEOGENESIS TYPE 2
- DIASTROPHIC DYSPLASIA
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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
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- ACHONDROGENESIS TYPE 1B 600972
- MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4 226900
- ATELOSTEOGENESIS TYPE 2 256050
- DIASTROPHIC DYSPLASIA 222600
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Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.108
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
Phenotypes
- Orofacial Clefting with skeletal features
- Atelosteogenesis II (includes clefting), 256050
- De la Chapelle dysplasia (includes clefting), 256050
- McAlister Dysplasia
- Diastrophic dysplasia (includes clefting), 222600
- Diastrophic dysplasia, broad bonehplatyspondylic variant, 222600
- DIASTROPHIC DYSPLASIA
- DTD
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Diastrophic dysplasia, 222600
- Atelosteogenesis II, 256050
- Achondrogenesis Ib, 600972
- Epiphyseal dysplasia, multiple, 4, 226900
- Diastrophic dysplasia, broad bone-platyspondylic variant, 222600
- De la
- Chapelle dysplasia, 256050
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Version 1.182
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Diastrophic dysplasia, 222600
- Epiphyseal dysplasia, multiple, 4, 226900
- Achondrogenesis Ib, 600972
- De la Chapelle dysplasia, 256050
- Diastrophic dysplasia, broad bone-platyspondylic variant, 222600
- Atelosteogenesis, type II, 256050
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