Description
Eligibility statement for Hydroa vacciniforme (15083):

Hydroa Vacciniforme inclusion criteria (29363)
- All six of the following:
  - Photosensitivity
  - Papulovesicular eruption
  - Typical varioliform scarring
  - Significantly elevated Epstein-Barr viral load in the blood
  - Positive phototest responses to UVA
  - clinical diagnosis must be made by an experienced photodermatologist able to differentiate this from other photodermatoses clinically

Hydroa Vacciniforme exclusion criteria (29363)
- No evidence of Epstein-Barr viral infection

Prior genetic testing guidance (29363)
- 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.

Closing statement (29363)
These requirements will be kept under continual review during the main programme and may be subject to change.

1 reviewer

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

3 genes

3 reviewed, 1 green

List Gene Reviews Mode of inheritance Details
3 genes
Green Green List (high evidence)
UVSSA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • UV-sensitive syndrome 3, 614640
Red Red List (low evidence)
ERCC6
1 review
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cockayne syndrome, type B, 133540Cerebrooculofacioskeletal syndrome 1, 214150De Sanctis-Cacchione syndrome, 278800{Macular degeneration, age-related, susceptibility to 5}, 613761UV-sensitive syndrome 1, 600630{Lung cancer, susceptibility to}, 211980
Red Red List (low evidence)
ERCC8
1 review
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cockayne syndrome, type A, 216400UV-sensitive syndrome 2, 614621

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

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