Description
This panel has been created as a placeholder for a new panel in development.

This panel is used for clinical indication 'R164 Epidermolysis bullosa and congenital skin fragility' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R164 Epidermolysis bullosa and congenital skin fragility'.

The content of this panel is overseen by the NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects regarding the assay(s) available.

If this panel is not being delivered by WGS, CNVs and STRs may not be routinely included in the analysis. Please contact your local Genomic Laboratory Hub for information regarding specific queries.

This panel is also a constituent panel of super panel 'Skin disorders'. Changes made to this panel will automatically be updated in the relevant super panel(s).

This panel was originally composed of genes and their overall ratings from the following gene panels:
- Epidermolysis bullosa (Version 1.3, code 119)
- Peeling skin syndrome (Version 1.2, code 24)

7 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

  • David Kelsell (Queen Mary University of London)

    Group: Other
    Workplace: Research lab

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Catherine Snow (Genomics England)

    Group: Other
    Workplace: Other

46 Entities

46 reviewed, 23 green

List Entity Reviews Mode of inheritance Details
46 Entitiess
Green Green List (high evidence)
CAST
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peeling skin HP:0040189
  • Leukonychia HP:0001820
  • OMIM:#616295
  • Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295
  • Punctate palmoplantar hyperkeratosis HP:0007530
  • Knuckle pads.
  • Cheilitis HP:0100825
Tags
Green Green List (high evidence)
CDSN
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • OMIM:#270300
  • Peeling skin HP:0040189
  • erythema HP:0010783
  • Allergy HP:0012393
  • Peeling skin syndrome 1, 270300
  • Hyperkeratosis HP:0000962.
  • Generalised erythroderma HP:0001019
  • PSS1
  • Increased IgE level HP:0003212
  • Pruritus HP:0000989
Tags
Green Green List (high evidence)
COL17A1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Generalised intermediate junctional Epidermolysis bullosa
  • Epidermolysis bullosa, junctional, non-Herlitz type, 226650
  • Junctional Epidermolysis Bullosa
Tags
Green Green List (high evidence)
COL7A1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa dystrophica (AD), 131750
  • Epidermolysis bullosa, pretibial (AR,AD), 131850
  • Epidermolysis bullosa dystrophica (AR), 226600
  • EBD, Bart type (AD), 132000
  • Dystrophic Epidermolysis Bullosa
  • Transient bullous of the newborn (AR,AD), 131705
  • EBD inversa (AR), 226600
Tags
Green Green List (high evidence)
CSTA
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hyperhidrosis HP:0000975
  • Peeling skin HP:0040189
  • OMIM:607936
  • erythema HP:0010783
  • Peeling skin syndrome 4, 607936
  • palmoplantar hyperkeratosis HP:0007530
  • Hyperkeratosis HP:0000962
  • Erythroderma HP:0001019
  • Lichenification HP:0100725
  • Ichthyosis HP:0008064
  • skin erosions HP:0200041
Tags
Green Green List (high evidence)
DSP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa, lethal acantholytic, 609638
  • Severe generalised Epidermolysis bullosa simplex
  • Skin fragility-woolly hair syndrome,607655
  • Lethal acantholytic epidermolysis bullosa
Tags
Green Green List (high evidence)
DST
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa simplex
  • Epidermolysis bullosa simplex, autosomal recessive 2, 615425
Tags
Green Green List (high evidence)
EXPH5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
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 Green
Phenotypes
  • Kindler syndrome (a separate category of Epidermolysis bullosa)
  • Kindler syndrome,173650
Tags
Green Green List (high evidence)
ITGA3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa, nonspecific, autosomal recessive, 615028
  • Junctional Epidermolysis bullosa
  • Interstitial Lung disease, Nephrotic syndrome and Epidermolysis bullosa syndrome
Tags
Green Green List (high evidence)
ITGA6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa with pyloric atresia
  • Epidermolysis Bullosa with Pyloric Atresia
  • Epidermolysis bullosa, junctional, with pyloric stenosis, 226730
  • generalised intermediate junctional Epidermolysis bullosa
Tags
Green Green List (high evidence)
ITGB4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Generalised intermediate junctional Epidermolysis bullosa
  • Epidermolysis bullosa, junctional, non-Herlitz type, 226650
  • Epidermolysis bullosa, junctional, with pyloric atresia, 226730
  • Epidermolysis bullosa with pyloric atresia
Tags
Green Green List (high evidence)
JUP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Severe generalised Epidermolysis bullosa simplex
  • Naxos disease, 601214
Tags
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)
Tags
Green Green List (high evidence)
KRT14
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa simplex, Weber-Cockayne type (AD), 131800
  • Dermatopathia pigmentosa reticularis (AD), 125595
  • Naegeli-Franceschetti-Jadassohn syndrome (AD), 161000
  • Epidermolysis bullosa simplex, Koebner type (AD), 131900
  • Epidermolysis bullosa simplex, Dowling-Meara type (AD), 131760
  • Epidermolysis Bullosa Simplex, Generalized
  • Epidermolysis bullosa simplex, recessive 1 (AR), 601001
  • Epidermolysis Bullosa Simplex, Localized
Tags
Green Green List (high evidence)
KRT5
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis Bullosa Simplex, Dowling-Meara Type
  • Epidermolysis Bullosa Simplex
  • Epidermolysis bullosa simplex, Dowling-Meara type, 131760
  • Epidermolysis Bullosa Simplex, Generalized
  • Epidermolysis bullosa simplex, Koebner type, 131900
  • Epidermolysis bullosa simplex with mottled pigmentation, 131960
  • Epidermolysis Bullosa Simplex, Localized
  • Epidermolysis bullosa simplex, Weber-Cockayne type, 131800
Tags
Green Green List (high evidence)
LAMA3
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa, junctional, Herlitz type, 226700
  • Shabbir syndrome
  • Epidermolysis bullosa, junctional, non-Herlitz type
  • Laryngo-onhycho-cutaneous syndrome associated with LAMA3A isoform
  • Severe generalised junctional Epidermolysis bullosa (occasionally intermediate)
  • Junctional Epidermolysis Bullosa
  • Epidermolysis bullosa, generalized atrophic benign, 226650
  • Laryngoonychocutaneous syndrome, 245660
Tags
Green Green List (high evidence)
LAMB3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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)
Tags
Green Green List (high evidence)
LAMC2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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)
Tags
Green Green List (high evidence)
PKP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
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
  • Expert Review Green
Phenotypes
  • Epidermolysis Bullosa with Muscular Dystrophy
  • Epidermolysis bullosa simplex, Ogna type (AD), 131950
  • Epidermolysis Bullosa Simplex, Ogna Type
  • Muscular dystrophy with epidermolysis bullosa simplex (AR), 226670
  • Epidermolysis bullosa simplex with pyloric atresia
  • Epidermolysis bullosa simplex with pyloric atresia (AR), 612138
  • Epidermolysis bullosa simplex including Ogna variant
  • Epidermolysis Bullosa Simplex With Muscular Dystrophy
  • Epidermolysis Bullosa Simplex With Pyloric Atresia
Tags
Green Green List (high evidence)
SERPINB8
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peeling skin HP:0040189
  • erythema HP:0010783
  • palmoplantar hyperkeratosis HP:0007530
  • Peeling skin syndrome 5, 617115
  • Ichthyosis HP:0008064
  • skin erosions HP:0200041
Tags
Green Green List (high evidence)
TGM5
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peeling skin syndrome 2, 609796
  • Acral peeling skin sydrome
Tags
Amber Amber List (moderate evidence)
ATP2A2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
ATP2C1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
CD151
4 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • [Blood group, Raph], 179620
  • Nephropathy with pretibial epidermolysis bullosa and deafness, 609057
  • Kindler syndrome-like epidermolysis bullosa
Tags
Amber Amber List (moderate evidence)
CTSB
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
DSC3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
DSG1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
DSG3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • mucosal fragility
Tags
Amber Amber List (moderate evidence)
EGFR
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
FLG2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
IKBKG
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
KRT1
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • EHK
  • Epidermolytic hyperkeratosis, 113800
  • Islands of superficial peeling on the skin of the trunk and the extensor surface of the legs
Tags
Amber Amber List (moderate evidence)
KRT10
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • EHK
  • Epidermolytic hyperkeratosis, 113800
Tags
Amber Amber List (moderate evidence)
PLOD3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
SLC39A4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
SLC39A7
1 review
Not set
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
SPINK5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Tags
Red Red List (low evidence)
CARD14
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
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
Phenotypes
  • Ichthyosis HP:0008064
  • Peeling skin HP:0040189
  • OMIM:#616265
  • ?Peeling skin syndrome 3, 616265
Tags
Red Red List (low evidence)
EDA
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
Phenotypes
  • Skin peeling/scaling (newborn)
  • Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100
Tags
Red Red List (low evidence)
KRT2
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Ichthyosis bullosa of Siemens, 146800
  • blistering, superficial peeling of the skin, and localized lichenified hyperkeratosis
Tags
Red Red List (low evidence)
MMP1
2 reviews
2 red
Not set
Sources
  • Expert Review Red
Phenotypes
  • {Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}, 226600
  • COPD, rate of decline of lung function in, 606963
Tags
Red Red List (low evidence)
TP63
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
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
  • Expert Review Red
Phenotypes
  • superficial peeling of the skin
  • Olmsted syndrome, 614594
Tags

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