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.

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 genes

21 reviewed, 19 green

List Gene Reviews Mode of inheritance Details
21 genes
Green Green List (high evidence)
COL17A1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Epidermolysis bullosa, junctional, non-Herlitz type, 226650
  • Junctional Epidermolysis Bullosa
  • Generalised intermediate junctional Epidermolysis bullosa
Green Green List (high evidence)
COL7A1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Dystrophic Epidermolysis Bullosa
  • Epidermolysis bullosa dystrophica (AD), 131750
  • Epidermolysis bullosa dystrophica (AR), 226600
  • Epidermolysis bullosa, pretibial (AR,AD), 131850
  • EBD, Bart type (AD), 132000
  • EBD inversa (AR), 226600
  • Transient bullous of the newborn (AR,AD), 131705
Green Green List (high evidence)
DSP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
  • UKGTN
Phenotypes
  • Epidermolysis bullosa, lethal acantholytic, 609638
  • Severe generalised Epidermolysis bullosa simplex
  • Lethal acantholytic epidermolysis bullosa
  • Skin fragility-woolly hair syndrome,607655
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
Green Green List (high evidence)
EXPH5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Epidermolysis bullosa, nonspecific, autosomal recessive, 615028
  • Epidermolysis bullosa simplex
Green Green List (high evidence)
FERMT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
Phenotypes
  • Kindler syndrome,173650
  • Kindler syndrome (a separate category of Epidermolysis bullosa)
Green Green List (high evidence)
ITGA3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Epidermolysis bullosa, nonspecific, autosomal recessive, 615028
  • Interstitial Lung disease, Nephrotic syndrome and Epidermolysis bullosa syndrome
  • Junctional Epidermolysis bullosa
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
Green Green List (high evidence)
ITGB4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
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
Green Green List (high evidence)
JUP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Eligibility statement prior genetic testing
  • Expert Review Green
Phenotypes
  • Naxos disease, 601214
  • Severe generalised Epidermolysis bullosa simplex
Green Green List (high evidence)
KLHL24
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa simplex (autosomal dominant)
Green Green List (high evidence)
KRT14
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
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
Green Green List (high evidence)
KRT5
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
  • 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
Green Green List (high evidence)
LAMA3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Eligibility statement prior genetic testing
  • Expert Review Green
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
Green Green List (high evidence)
LAMB3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Epidermolysis bullosa, junctional, Herlitz type, 226700
  • Epidermolysis bullosa, junctional, non-Herlitz type, 226650
  • Junctional Epidermolysis Bullosa
  • Severe generalised junctional Epidermolysis bullosa (occasionally intermediate)
Green Green List (high evidence)
LAMC2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa, junctional, Herlitz type, 226700
  • Epidermolysis bullosa, junctional, non-Herlitz type, 226650
  • Junctional Epidermolysis Bullosa
  • Severe generalised junctional Epidermolysis bullosa (occasionally intermediate)
Green Green List (high evidence)
PKP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Ectodermal dysplasia/skin fragility syndrome, 604536
  • McGrath Syndrome
  • Ectodermal dysplasia-skin fragility syndrome, but classified as Epidermolysis bullosa
Green Green List (high evidence)
PLEC
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Epidermolysis bullosa simplex, Ogna type (AD), 131950
  • Epidermolysis bullosa simplex including Ogna variant
  • Epidermolysis Bullosa Simplex, Ogna Type
  • Epidermolysis bullosa simplex with pyloric atresia (AR), 612138
  • Epidermolysis bullosa simplex with pyloric atresia
  • Epidermolysis Bullosa Simplex With Pyloric Atresia
  • Muscular dystrophy with epidermolysis bullosa simplex (AR), 226670
  • Epidermolysis Bullosa with Muscular Dystrophy
  • Epidermolysis Bullosa Simplex With Muscular Dystrophy
Green Green List (high evidence)
TGM5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
  • Expert Review Green
Phenotypes
  • Peeling skin syndrome 2, 609796
  • Acral peeling skin sydrome
Red Red List (low evidence)
CD151
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Nephropathy with pretibial epidermolysis bullosa and deafness, 609057
  • [Blood group, Raph], 179620
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

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

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