Description
Peeling skin syndrome inclusion criteria (36543)
•	Generalised peeling skin with or without atopy, OR
•	Acral peeling skin (TGM5 mutations excluded), OR
•	Peeling skin in association with other features, OR
AND
•	Diagnosis of peeling skin syndrome confirmed by consultant dermatogist

Peeling skin syndrome exclusion criteria (36543)
•	Peeling skin cases that have not had the genetic testing below

Prior genetic testing guidance (36543)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Peeling skin syndrome prior genetic testing genes (36543)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 -	For those with acral peeling skin: TGM5

Closing statement (36543)
These requirements will be kept under continual review during the main programme and may be subject to change.

3 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • David Kelsell (Queen Mary University of London)

    Group: Other
    Workplace: Research lab

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

13 Entities

13 reviewed, 5 green

List Entity Reviews Mode of inheritance Details
13 Entitiess
Green Green List (high evidence)
CAST
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Research
Phenotypes
  • Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295
  • OMIM:#616295
  • Peeling skin HP:0040189
  • Leukonychia HP:0001820
  • Punctate palmoplantar hyperkeratosis HP:0007530
  • Cheilitis HP:0100825
  • Knuckle pads.
Tags
Green Green List (high evidence)
CDSN
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Peeling skin syndrome 1, 270300
  • PSS1
  • OMIM:#270300
  • Peeling skin HP:0040189
  • Pruritus HP:0000989
  • Allergy HP:0012393
  • Increased IgE level HP:0003212
  • Generalised erythroderma HP:0001019
  • erythema HP:0010783
  • Hyperkeratosis HP:0000962.
Tags
Green Green List (high evidence)
CSTA
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Research
Phenotypes
  • Peeling skin syndrome 4, 607936
  • OMIM:607936
  • Peeling skin HP:0040189
  • Ichthyosis HP:0008064
  • skin erosions HP:0200041
  • erythema HP:0010783
  • palmoplantar hyperkeratosis HP:0007530
  • Hyperhidrosis HP:0000975
  • Lichenification HP:0100725
  • Hyperkeratosis HP:0000962
  • Erythroderma HP:0001019
Tags
Green Green List (high evidence)
SERPINB8
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Research
Phenotypes
  • Peeling skin syndrome 5, 617115
  • Peeling skin HP:0040189
  • Ichthyosis HP:0008064
  • skin erosions HP:0200041
  • erythema HP:0010783
  • palmoplantar hyperkeratosis HP:0007530
Tags
Green Green List (high evidence)
TGM5
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Other
Phenotypes
  • Peeling skin syndrome 2, 609796
  • acral peeling skin
Tags
Red Red List (low evidence)
CARD14
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
Phenotypes
  • Pityriasis rubra pilaris, 173200
  • PRP
  • thick scales on the scalp and areas of superficial peeling on the face, palms, soles, and genital region
Tags
Red Red List (low evidence)
CHST8
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • ?Peeling skin syndrome 3, 616265
  • OMIM:#616265
  • Peeling skin HP:0040189
  • Ichthyosis HP:0008064
Tags
Red Red List (low evidence)
EDA
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Other
Phenotypes
  • Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100
  • Skin peeling/scaling (newborn)
Tags
Red Red List (low evidence)
KRT1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
Phenotypes
  • Epidermolytic hyperkeratosis, 113800
  • EHK
  • Islands of superficial peeling on the skin of the trunk and the extensor surface of the legs
Tags
Red Red List (low evidence)
KRT10
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Other
Phenotypes
  • Epidermolytic hyperkeratosis, 113800
  • EHK
Tags
Red Red List (low evidence)
KRT2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
Phenotypes
  • Ichthyosis bullosa of Siemens, 146800
  • blistering, superficial peeling of the skin, and localized lichenified hyperkeratosis
Tags
Red Red List (low evidence)
TP63
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
Phenotypes
  • Hay-Wells syndrome, 106260
  • Red, cracking, peeling skin at birth
Tags
Red Red List (low evidence)
TRPV3
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
Phenotypes
  • Olmsted syndrome, 614594
  • superficial peeling of the skin
Tags

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