Description
Eligibility statement for Epidermolysis bullosa (33684):

Epidermolysis bullosa inclusion criteria (33473)
•	Patients with inherited skin fragility and a clinical diagnosis of EB of unknown cause
•	Diagnosis confirmed by a consultant dermatologist

Epidermolysis bullosa exclusion criteria (33473)
•	Non-EB genetic causes including porphyria or photosensitivity syndromes
•	Acquired causes including EB acquisita and bullous drug reactions

Prior genetic testing guidance (33473)
- 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.

Epidermolysis bullosa prior genetic testing genes (33473)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 KRT5, KRT14, PLEC, DSP, PKP1, JUP, TGM5, EXPH5, ITGA3, ITGA6, ITGB4, DST, COL17A1, LAMA3, LAMA3A, LAMB3, LAMC2, COL7A1

Closing statement (33473)
These requirements will be kept under continual review during the main programme and may be subject to change.
Panel Activity

4 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • John McGrath (King's College London)

    Group: GeCIP domain
    Workplace: Research lab

  • John McGrath (KCL)

    Group: GeCIP domain
    Workplace: Research lab

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

21 Entities

21 reviewed, 19 green

List Entity Reviews Mode of inheritance Details
21 Entitiess
Green Green List (high evidence)
COL17A1
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epidermolysis bullosa, junctional 4, intermediate, OMIM:619787
Tags
Green Green List (high evidence)
COL7A1
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epidermolysis bullosa dystrophica (AD), OMIM:131750
  • Epidermolysis bullosa, pretibial (AR,AD), OMIM:131850
  • Epidermolysis bullosa dystrophica (AR), OMIM:226600
  • EBD, Bart type (AD), OMIM:132000
  • Epidermolysis bullosa pruriginosa, OMIM:604129
  • Transient bullous of the newborn (AR,AD), OMIM:131705
  • EBD inversa (AR), OMIM:226600
Tags
Green Green List (high evidence)
DSP
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Epidermolysis bullosa, lethal acantholytic, OMIM:609638
  • Skin fragility-woolly hair syndrome, OMIM:607655
Tags
Green Green List (high evidence)
DST
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epidermolysis bullosa simplex, autosomal recessive 2, 615425
  • Epidermolysis bullosa simplex
Tags
Green Green List (high evidence)
EXPH5
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epidermolysis bullosa, nonspecific, autosomal recessive, 615028
  • Epidermolysis bullosa simplex
Tags
Green Green List (high evidence)
FERMT1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Kindler syndrome,173650
  • Kindler syndrome (a separate category of Epidermolysis bullosa)
Tags
Green Green List (high evidence)
ITGA3
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epidermolysis bullosa, nonspecific, autosomal recessive, 615028
  • Interstitial Lung disease, Nephrotic syndrome and Epidermolysis bullosa syndrome
  • Junctional Epidermolysis bullosa
Tags
Green Green List (high evidence)
ITGA6
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epidermolysis bullosa, junctional, with pyloric stenosis, 226730
  • Epidermolysis Bullosa with Pyloric Atresia
  • Epidermolysis bullosa with pyloric atresia
  • generalised intermediate junctional Epidermolysis bullosa
Tags
Green Green List (high evidence)
ITGB4
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epidermolysis bullosa, junctional, with pyloric atresia, 226730
  • Epidermolysis bullosa with pyloric atresia
  • Epidermolysis bullosa, junctional, non-Herlitz type, 226650
  • Generalised intermediate junctional Epidermolysis bullosa
Tags
Green Green List (high evidence)
JUP
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Naxos disease, OMIM:601214
  • Generalised skin fragility, epidermolysis bullosa
Tags
Green Green List (high evidence)
KLHL24
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epidermolysis bullosa simplex (autosomal dominant)
Tags
Green Green List (high evidence)
KRT14
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Epidermolysis bullosa simplex, Dowling-Meara type (AD), 131760
  • Epidermolysis bullosa simplex, Koebner type (AD), 131900
  • Epidermolysis Bullosa Simplex, Generalized
  • Epidermolysis bullosa simplex, Weber-Cockayne type (AD), 131800
  • Epidermolysis Bullosa Simplex, Localized
  • Naegeli-Franceschetti-Jadassohn syndrome (AD), 161000
  • Epidermolysis bullosa simplex, recessive 1 (AR), 601001
  • Dermatopathia pigmentosa reticularis (AD), 125595
Tags
Green Green List (high evidence)
KRT5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
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
Tags
Green Green List (high evidence)
LAMA3
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Epidermolysis bullosa, generalized atrophic benign, 226650
  • Epidermolysis bullosa, junctional, non-Herlitz type
  • Epidermolysis bullosa, junctional, Herlitz type, 226700
  • Severe generalised junctional Epidermolysis bullosa (occasionally intermediate)
  • Laryngoonychocutaneous syndrome, 245660
  • Laryngo-onhycho-cutaneous syndrome associated with LAMA3A isoform
  • Shabbir syndrome
  • Junctional Epidermolysis Bullosa
Tags
Green Green List (high evidence)
LAMB3
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epidermolysis bullosa, junctional, Herlitz type, 226700
  • Epidermolysis bullosa, junctional, non-Herlitz type, 226650
  • Junctional Epidermolysis Bullosa
  • Severe generalised junctional Epidermolysis bullosa (occasionally intermediate)
Tags
Green Green List (high evidence)
LAMC2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epidermolysis bullosa, junctional, Herlitz type, 226700
  • Epidermolysis bullosa, junctional, non-Herlitz type, 226650
  • Junctional Epidermolysis Bullosa
  • Severe generalised junctional Epidermolysis bullosa (occasionally intermediate)
Tags
Green Green List (high evidence)
PKP1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ectodermal dysplasia/skin fragility syndrome, 604536
  • McGrath Syndrome
  • Ectodermal dysplasia-skin fragility syndrome, but classified as Epidermolysis bullosa
Tags
Green Green List (high evidence)
PLEC
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive , OMIM:616487
  • Epidermolysis bullosa simplex 5A, Ogna type, OMIM:131950
  • Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670
  • Epidermolysis bullosa simplex 5C, with pyloric atresia, OMIM:612138
Tags
Green Green List (high evidence)
TGM5
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Peeling skin syndrome 2, 609796
  • Acral peeling skin sydrome
Tags
Red Red List (low evidence)
CD151
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Nephropathy with pretibial epidermolysis bullosa and deafness, 609057
  • [Blood group, Raph], 179620
  • Kindler syndrome-like epidermolysis bullosa
Tags
Red Red List (low evidence)
MMP1
2 reviews
2 red 		Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • COPD, rate of decline of lung function in, 606963
  • {Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}, 226600
Tags

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