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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
- Expert list
- Emory Genetics Laboratory
Phenotypes
- Amelogenesis imperfecta, type IV 104510
- Trichodontoosseous syndrome 190320
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 3.3
Latest signed off version: v3.0
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Eligibility statement prior genetic testing
Phenotypes
- Amelogenesis imperfecta, type IV, 104510
- Amelogenesis Imperfecta, Type IV, 104510
- Amelogenesis Imperfecta, Dominant
- amelogenesis imperfecta with taurodontism
- Trichodontoosseous syndrome, 190320
- Tricho-dento-osseous syndrome (TDO) (includes enamel hypoplasia)
- hypoplastic AI, taurodontism and kinky hair
- Tricho-Dento-Osseous syndrome , Amelogenesis Imperfecta, hypoplastic
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Version 1.184
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Trichodontoosseous syndrome, 190320
- Amelogenesis imperfecta, type IV, 104510
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