Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.20
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert Review
Phenotypes
- Jeune/Axial Spondylomethaphyseal dysplasia
- Axial Spondylometaphyseal Dysplasia 602271
Tags
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.57
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
- NHS GMS
- Expert Review Green
- Expert list
- Literature
Phenotypes
- Spondylometaphyseal dysplasia, axial 602271
- Axial Spondylometaphyseal Dysplasia 602271
Tags
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Version 3.157
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
- Axial Spondylometaphyseal Dysplasia
Tags
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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
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- Axial Spondylometaphyseal Dysplasia
Tags
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Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.89
Latest signed off version: v4.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Retinal dystrophy with macular staphyloma, 617547
Tags
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Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.171
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert list
Phenotypes
- Jeune asphyxiating thoracic dystrophy (JATD)
- Retinal dystrophy with macular staphyloma, 617547
- Spondylometaphyseal dysplasia, axial, 602271
- Jeune Syndrome
Tags
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Version 3.6
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
Rare multisystem ciliopathy Super panel
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
- Expert Review Green
- Expert list
Phenotypes
- Jeune asphyxiating thoracic dystrophy (JATD)
- Jeune Syndrome
- Spondylometaphyseal dysplasia, axial, 602271
- Retinal dystrophy with macular staphyloma, 617547
Tags
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.22
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
Rare multisystem ciliopathy Super panel
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
- Expert Review Green
- Expert list
Phenotypes
- Jeune asphyxiating thoracic dystrophy (JATD)
- Jeune Syndrome
- Spondylometaphyseal dysplasia, axial, 602271
- Retinal dystrophy with macular staphyloma, 617547
Tags
|
Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
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Sources
- Expert Review Red
- London North GLH
- Expert Review Red
- London North GLH
Tags
|
Version 1.184
|
review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Spondylometaphyseal dysplasia, axial, 602271
- Retinal dystrophy with macular staphyloma, 617547
Tags
|