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Level 3: Skin fragility disorders
Level 2: Dermatological disorders
Version 1.11
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Eligibility statement prior genetic testing
Phenotypes
- Epidermolysis bullosa simplex, Dowling-Meara type, 131760
- Epidermolysis bullosa simplex, Koebner type, 131900
- Epidermolysis bullosa simplex, Weber-Cockayne type, 131800
- Epidermolysis bullosa simplex with mottled pigmentation, 131960
- Epidermolysis Bullosa Simplex
- Epidermolysis Bullosa Simplex, Generalized
- Epidermolysis Bullosa Simplex, Localized
- Epidermolysis Bullosa Simplex, Dowling-Meara Type
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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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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
Phenotypes
- Epidermolysis bullosa simplex, Dowling-Meara type, OMIM:131760
- Epidermolysis bullosa simplex, Koebner type, OMIM:131900
- Epidermolysis bullosa simplex with mottled pigmentation, OMIM:131960
- Epidermolysis bullosa simplex, Weber-Cockayne type, OMIM:131800
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Version 3.12
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
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- DOWLING-DEGOS DISEASE 1
- DDD1
- Epidermolysis bullosa
- Dowling-Degos disease
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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
- Epidermolysis bullosa simplex, Weber-Cockayne type, 131800
- Epidermolysis bullosa simplex, Koebner type, 131900
- Epidermolysis bullosa simplex-MCR, 609352
- Dowling-Degos disease 1, 179850
- Epidermolysis bullosa simplex, Dowling-Meara type, 131760
- Epidermolysis bullosa simplex-MP, 131960
- Epidermolysis bullosa simplex, recessive 1, 601001
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