Level 3: Skin fragility disorders
Level 2: Dermatological disorders
Version 1.11
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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
- Eligibility statement prior genetic testing
Phenotypes
- Epidermolysis bullosa, junctional, Herlitz type, 226700
- Epidermolysis bullosa, junctional, non-Herlitz type, 226650
- Junctional Epidermolysis Bullosa
- Severe generalised junctional Epidermolysis bullosa (occasionally intermediate)
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Version 2.7
Latest signed off version: v2.2
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- Epidermolysis bullosa, junctional, Herlitz type, OMIM:226700
- Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650
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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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BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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Sources
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Eligibility statement prior genetic testing
Phenotypes
- Amelogenesis imperfecta, type IA, 104530
- Amelogenesis Imperfecta, Type IA, 104530
- Epidermolysis bullosa, junctional, Herlitz type, 26700
- Epidermolysis bullosa, junctional, non-Herlitz type, 226650
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Version 3.155
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
- Expert Review Red
- PAGE Additional Gene List
Phenotypes
- Epidermolysis bullosa, junctional 226700
- Epidermolysis bullosa, junctional 226650
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Version 1.184
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Amelogenesis imperfecta, type IA, 104530
- Epidermolysis bullosa, junctional, Herlitz type, 226700
- Epidermolysis bullosa, junctional, non-Herlitz type, 226650
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