Description
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'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number. 

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

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)
Panel Activity

10 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

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Catherine Snow (Genomics England)

    Group: Other
    Workplace: Other

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

47 Entities

47 reviewed, 30 green

List Entity Reviews Mode of inheritance Details
47 Entitiess
Green Green List (high evidence)
ATP2C1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Hailey-Hailey disease, OMIM:169600
Tags
Green Green List (high evidence)
CAST
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, OMIM:616295
Tags
Green Green List (high evidence)
CDSN
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peeling skin syndrome 1, OMIM:270300
Tags
Green Green List (high evidence)
COL17A1
3 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa, junctional 4, intermediate, OMIM:619787
Tags
Green Green List (high evidence)
COL7A1
3 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
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)
CSTA
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peeling skin syndrome 4, OMIM:607936
Tags
Green Green List (high evidence)
DSG1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, OMIM:615508
  • Keratosis palmoplantaris striata I, AD, OMIM:148700
Tags
Green Green List (high evidence)
DSP
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
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
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa simplex, autosomal recessive 2, OMIM: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, OMIM:615028
Tags
Green Green List (high evidence)
FERMT1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Kindler syndrome, OMIM:173650
Tags
Green Green List (high evidence)
FLG2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peeling skin syndrome 6, OMIM:618084
Tags
Green Green List (high evidence)
IKBKG
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Incontinentia pigmenti, OMIM:308300
Tags
Green Green List (high evidence)
ITGA3
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, OMIM:614748
Tags
Green Green List (high evidence)
ITGA6
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa, junctional, with pyloric stenosis, OMIM:226730
Tags
Green Green List (high evidence)
ITGB4
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650
  • Epidermolysis bullosa, junctional, with pyloric atresia, OMIM:226730
Tags
Green Green List (high evidence)
JUP
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Naxos disease, OMIM:601214
  • Generalised skin fragility, epidermolysis bullosa
Tags
Green Green List (high evidence)
KLHL24
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa simplex, generalized, with scarring and hair loss, OMIM:617294
Tags
Green Green List (high evidence)
KRT1
3 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Epidermolytic hyperkeratosis, OMIM:113800
Tags
Green Green List (high evidence)
KRT10
3 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Epidermolytic hyperkeratosis, OMIM:113800
Tags
Green Green List (high evidence)
KRT14
3 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa simplex, Weber-Cockayne type (AD), OMIM:131800
  • Dermatopathia pigmentosa reticularis (AD), OMIM:125595
  • Naegeli-Franceschetti-Jadassohn syndrome (AD), OMIM:161000
  • Epidermolysis bullosa simplex, Koebner type (AD), OMIM:131900
  • Epidermolysis bullosa simplex, Dowling-Meara type (AD), OMIM:131760
  • Epidermolysis bullosa simplex, recessive 1 (AR), OMIM:601001
Tags
Green Green List (high evidence)
KRT5
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa simplex, Dowling-Meara type, OMIM:131760
  • Epidermolysis bullosa simplex, Koebner type, OMIM:131900
  • Epidermolysis bullosa simplex with mottled pigmentation, OMIM:131960
  • Epidermolysis bullosa simplex, Weber-Cockayne type, OMIM:131800
Tags
Green Green List (high evidence)
LAMA3
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa, junctional, Herlitz type, OMIM:226700
  • Epidermolysis bullosa, generalized atrophic benign, OMIM:226650
  • Laryngoonychocutaneous syndrome, OMIM:245660
Tags
Green Green List (high evidence)
LAMB3
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa, junctional, Herlitz type, OMIM:226700
  • Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650
Tags
Green Green List (high evidence)
LAMC2
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa, junctional, Herlitz type, OMIM:226700
  • Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650
Tags
Green Green List (high evidence)
PKP1
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia/skin fragility syndrome, OMIM:604536
Tags
Green Green List (high evidence)
PLEC
3 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa simplex, Ogna type (AD), OMIM:131950
  • Epidermolysis bullosa simplex with muscular dystrophy, OMIM:226670
  • Epidermolysis bullosa simplex with pyloric atresia (AR), OMIM:612138
Tags
Green Green List (high evidence)
SERPINB8
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peeling skin syndrome 5, OMIM:617115
Tags
Green Green List (high evidence)
SLC39A4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Acrodermatitis enteropathica, OMIM:201100
Tags
Green Green List (high evidence)
TGM5
5 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peeling skin syndrome 2, OMIM:609796
  • Acral peeling skin sydrome,MONDO:0012345
Tags
Amber Amber List (moderate evidence)
ATP2A2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Darier-White disease, OMIM:124200
Tags
Amber Amber List (moderate evidence)
CD151
5 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Nephropathy with pretibial epidermolysis bullosa and deafness, OMIM:609057
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
Phenotypes
  • ?Hypotrichosis and recurrent skin vesicles, OMIM:613102
Tags
Amber Amber List (moderate evidence)
NAXD
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, OMIM:618321
Tags
  • watchlist
Amber Amber List (moderate evidence)
PLOD3
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
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, OMIM:173200
  • 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)
DSG3
4 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Blistering, acantholytic, of oral and laryngeal mucosa, OMIM:619226
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)
EGFR
3 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ?Inflammatory skin and bowel disease, neonatal, 2, OMIM:616069
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)
SPINK5
3 reviews
1 green 2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Netherton syndrome, OMIM:256500
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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