1. Panels
  2. Epidermolysis bullosa

Epidermolysis bullosa (Version 1.20)

Level 2: Dermatological disorders

Relevant disorders: Abnormal blistering of the skin, HP:0008066
Panel types: Victorian Clinical Genetics Services, Royal Melbourne Hospital, Rare Disease
Description
This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).

This panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.

This panel was created by merging the panels developed by VCGS and RMH.
Panel Activity

9 reviewers

  • Kristin Rigbye (Victorian Clinical Genetics Services)

  • Belinda Chong (Victorian Clinical Genetics Services)

  • Lauren Akesson (Royal Melbourne Hospital)

  • Paul De Fazio (Victorian Clinical Genetics Services)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Sangavi Sivagnanasundram (Melbourne Health)

  • Chern Lim (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

46 Entities

46 reviewed, 37 green

List Entity Reviews Mode of inheritance Details
46 Entitiess
Green List (high evidence)
ATP2A2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Darier disease (MIM#124200)
Tags
Green List (high evidence)
ATP2C1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hailey-Hailey disease (MIM# 169600)
Tags
Green List (high evidence)
CAST
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (MIM# 616295)
Tags
Green List (high evidence)
CD151
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057
Tags
Green List (high evidence)
CDSN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Peeling skin syndrome 1 (MIM#270300)
Tags
Green List (high evidence)
COL17A1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epidermolysis bullosa, junctional, localisata variant, MIM# 226650
  • Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650
  • Epithelial recurrent erosion dystrophy, MIM# 122400
Tags
Green List (high evidence)
COL7A1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • EBD inversa, MIM# 226600
  • EBD, Bart type MIM# 132000
  • EBD, localisata variant
  • Epidermolysis bullosa dystrophica, MIM# 131750
  • Epidermolysis bullosa dystrophica, 226600
  • Epidermolysis bullosa pruriginosa 604129
  • Epidermolysis bullosa, pretibial, MIM# 131850
  • Transient bullous of the newborn 131705
Tags
Green List (high evidence)
CSTA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Peeling skin syndrome 4 (MIM#607936)
Tags
Green List (high evidence)
DSG1
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508)
  • Keratosis palmoplantaris striata I, AD (MIM# 148700)
Tags
Green List (high evidence)
DSP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epidermolysis bullosa, lethal acantholytic, MIM# 609638
Tags
Green List (high evidence)
DST
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epidermolysis bullosa simplex, autosomal recessive 2, MIM# 615425
Tags
Green List (high evidence)
EXPH5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epidermolysis bullosa, nonspecific, autosomal recessive, MIM# 615028
Tags
Green List (high evidence)
FERMT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Kindler syndrome, MIM# 173650
Tags
Green List (high evidence)
FLG2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Peeling skin syndrome 6, MIM# 618084
Tags
Green List (high evidence)
IKBKG
3 reviews
3 green 		Other
Sources
  • Expert list
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Incontinentia pigmenti (MIM#308300)
Tags
  • SV/CNV
Green List (high evidence)
ITGA3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748
Tags
Green List (high evidence)
ITGA6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epidermolysis bullosa, junctional, with pyloric stenosis, MIM# 226730
Tags
Green List (high evidence)
ITGB4
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epidermolysis bullosa of hands and feet, MIM# 131800
  • Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650
  • Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730
Tags
Green List (high evidence)
KLHL24
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epidermolysis bullosa simplex, generalized, with scarring and hair loss, MIM# 617294
Tags
Green List (high evidence)
KRT1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epidermolytic hyperkeratosis (MIM#113800
  • Epidermolytic ichthyosis
Tags
Green List (high evidence)
KRT10
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epidermolytic hyperkeratosis (MIM#113800)
  • Ichthyosis with confetti (MIM#609165)
  • Ichthyosis, cyclic, with epidermolytic hyperkeratosis (MIM#607602)
Tags
Green List (high evidence)
KRT14
3 reviews
3 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Epidermolysis bullosa simplex, recessive 1, 601001
  • Dermatopathia pigmentosa reticularis, 125595
  • Epidermolysis bullosa simplex, Dowling-Meara type, 131760
  • Epidermolysis bullosa simplex, Koebner type, 131900
  • Epidermolysis bullosa simplex, Weber-Cockayne type, 131800
  • Naegeli-Franceschetti-Jadassohn syndrome, 161000
Tags
Green List (high evidence)
KRT16
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Pachyonychia congenita 1 (MIM#167200)
Tags
Green List (high evidence)
KRT17
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Pachyonychia congenita 2 (MIM#167210)
Tags
Green List (high evidence)
KRT2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Superficial epidermolytic ichthyosis (SEI) (MIM#146800)
Tags
Green List (high evidence)
KRT5
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dowling-Degos disease 1, MIM# 179850
  • Epidermolysis bullosa simplex-MCR, MIM# 609352
  • Epidermolysis bullosa simplex-MP 131960
  • Epidermolysis bullosa simplex, Dowling-Meara type, MIM# 131760
  • Epidermolysis bullosa simplex, Koebner type, MIM# 131900
  • Epidermolysis bullosa simplex, recessive 1, MIM# 601001
  • Epidermolysis bullosa simplex, Weber-Cockayne type, MIM# 131800
Tags
Green List (high evidence)
KRT6A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Pachyonychia congenita 3 MIM#615726
Tags
Green List (high evidence)
KRT6B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Pachyonychia congenita 4 MIM#615728
Tags
Green List (high evidence)
KRT6C
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Palmoplantar keratoderma, nonepidermolytic, focal or diffuse (MIM#615735)
Tags
Green List (high evidence)
LAMA3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epidermolysis bullosa, junctional 2A, intermediate MIM#619783
  • Epidermolysis bullosa, junctional 2B, severe MIM#619784
  • Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous MIM#245660
Tags
Green List (high evidence)
LAMB3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700
  • Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650
Tags
Green List (high evidence)
LAMC2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700
  • Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650
Tags
Green List (high evidence)
PKP1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ectodermal dysplasia/skin fragility syndrome, MIM# 604536
Tags
Green List (high evidence)
PLEC
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epidermolysis bullosa simplex with nail dystrophy 616487 AR 3 Epidermolysis bullosa simplex with muscular dystrophy, MIM# 226670
  • Epidermolysis bullosa simplex with pyloric atresia, MIM# 612138
  • Epidermolysis bullosa simplex, Ogna type, MIM# 131950
Tags
Green List (high evidence)
SLC39A4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Acrodermatitis enteropathica (MIM#201100)
Tags
Green List (high evidence)
SPINK5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Netherton syndrome (MIM#256500)
Tags
Green List (high evidence)
TGM5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Peeling skin syndrome 2, MIM# 609796
Tags
Amber List (moderate evidence)
CSTB
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Keratolytic winter erythema (MIM#148370)
Tags
  • SV/CNV
Amber List (moderate evidence)
DSC3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hypotrichosis and recurrent skin vesicles (MIM# 613102)
Tags
Amber List (moderate evidence)
JUP
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Naxos disease MIM#601214
  • Congenital epidermolysis bullosa
Tags
Amber List (moderate evidence)
PLOD3
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Blistering skin lesions
Tags
Amber List (moderate evidence)
SERPINB8
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Peeling skin syndrome 5 (MIM#617115)
Tags
Amber List (moderate evidence)
TUFT1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
  • Literature
Phenotypes
  • Woolly hair-skin fragility syndrome, MIM# 620415
Tags
Red List (low evidence)
DSG3
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Blistering, acantholytic, of oral and laryngeal mucosa, MIM# 619226
Tags
Red List (low evidence)
KDSR
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 4 MIM#617526
Tags
Red List (low evidence)
SLC39A7
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Agammaglobulinaemia 9, autosomal recessive, MIM# 619693
  • Absent B cells
  • Agammaglobulinemia
  • Early onset infections
Tags

Major version comments

  • 2021-02-13 09:08 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 1.0
    Fully reviewed and promoted to V1.

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  • Green list (high evidence)
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