Description
Eligibility statement for Erythropoietic protoporphyria, mild variant (11037):

Erythropoietic protoporphyria, mild variant inclusion criteria (29354)
- History of episodic photosensitivity;
- No evidence of an alternative cause of photosensitivity;
- Onset of symptoms >60 mins after sun exposure and/or atypical symptoms compared to classical EPP photosensitivity and/or resolution of symptoms <48 hours
- Raised red cell free protoporphyrin concentration

Erythropoietic protoporphyria, mild variant exclusion criteria (29354)
- Normal red cell protoporphyrin concentration

Prior genetic testing guidance (29354)
- 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.

Erythropoietic protoporphyria, mild variant prior genetic testing genes (29354)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 - FECH

Closing statement (29354)
These requirements will be kept under continual review during the main programme and may be subject to change.

2 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • John McGrath (King's College London)

    Group: GeCIP domain
    Workplace: Research lab

2 Entities

2 reviewed, 2 green

List Entity Reviews Mode of inheritance Details
2 Entitiess
Green Green List (high evidence)
ALAS2
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Anemia, sideroblastic, X-linked, 300751
  • Protoporphyria, erythropoietic, X-linked, 300752
Tags
Green Green List (high evidence)
FECH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Erythropoietic Protoporphyria
  • Protoporphyria, erythropoietic, autosomal recessive, 177000
Tags

Major version comments

Downloads

Download lists

Download Version