Level 3: Keratodermas
Level 2: Dermatological disorders
Version 1.31
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Eligibility statement prior genetic testing
Phenotypes
- Diffuse palmoplantar keratoderma
- triate keratoderma
- Epidermolytic hyperkeratosis, 113800
- Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602
- Ichthyosis histrix, Curth-Macklin type, 146590
- Palmoplantar keratoderma, nonepidermolytic, 600962
- Palmoplantar keratoderma, epidermolytic, 1
- Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602
- Palmoplantar keratoderma, epidermolytic, 1
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Level 3: Skin fragility disorders
Level 2: Dermatological disorders
Version 1.4
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
Phenotypes
- Epidermolytic hyperkeratosis, 113800
- EHK
- Islands of superficial peeling on the skin of the trunk and the extensor surface of the legs
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Version 3.25
Latest signed off version: v3.2
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
Phenotypes
- Palmoplantar keratoderma, nonepidermolytic, OMIM:600962
- Palmoplantar keratoderma, epidermolytic, OMIM:
- 600962
- Ichthyosis histrix, Curth-Macklin type, OMIM:146590
- Epidermolytic hyperkeratosis, OMIM:113800
- Ichthyosis, cyclic, with epidermolytic hyperkeratosis, OMIM:607602
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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
- Epidermolytic hyperkeratosis, OMIM:113800
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Version 3.25
Latest signed off version: v3.0
(22 Mar 2023)
|
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
- Ichthyosis histrix
- Palmoplantar keratoderma
- Epidermolytic hyperkeratosis
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Version 3.5
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Amber
- London North GLH
- NHS GMS
Phenotypes
- Ichthyosis histrix
- Palmoplantar keratoderma
- Epidermolytic hyperkeratosis
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Version 2.41
Latest signed off version: v2.0
(30 Nov 2022)
|
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
- Epidermolytic hyperkeratosis
- Palmoplantar keratoderma
- Ichthyosis histrix
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