Activity

Filter

Cancel
Date Panel Item Activity
211 actions
Epidermolysis bullosa and congenital skin fragility v2.4 ATP2A2 Arina Puzriakova Phenotypes for gene: ATP2A2 were changed from Darier disease, OMIM:124200 to Darier-White disease, OMIM:124200
Epidermolysis bullosa and congenital skin fragility v2.3 Eleanor Williams Panel version 2.2 has been signed off on 2023-03-22
Epidermolysis bullosa and congenital skin fragility v2.2 Eleanor Williams Panel signed off version 2.0 has been removed
Epidermolysis bullosa and congenital skin fragility v2.1 Sarah Leigh Panel version 2.0 has been signed off on 2022-03-22
Epidermolysis bullosa and congenital skin fragility v2.0 Sarah Leigh promoted panel to version 2.0
Epidermolysis bullosa and congenital skin fragility v1.57 SPINK5 Arina Puzriakova Tag Q3_22_rating was removed from gene: SPINK5.
Tag Q3_22_expert_review was removed from gene: SPINK5.
Epidermolysis bullosa and congenital skin fragility v1.57 SPINK5 Arina Puzriakova edited their review of gene: SPINK5: Added comment: The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.; Changed rating: RED
Epidermolysis bullosa and congenital skin fragility v1.56 SPINK5 Arina Puzriakova Source NHS GMS was added to SPINK5.
Source Expert Review Red was added to SPINK5.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Epidermolysis bullosa and congenital skin fragility v1.55 JUP Arina Puzriakova Phenotypes for gene: JUP were changed from Severe generalised Epidermolysis bullosa simplex to Naxos disease, OMIM:601214; Generalised skin fragility, epidermolysis bullosa
Epidermolysis bullosa and congenital skin fragility v1.54 DSP Arina Puzriakova Phenotypes for gene: DSP were changed from Epidermolysis bullosa, lethal acantholytic, OMIM:609638 to Epidermolysis bullosa, lethal acantholytic, OMIM:609638; Skin fragility-woolly hair syndrome, OMIM:607655
Epidermolysis bullosa and congenital skin fragility v1.53 SPINK5 Eleanor Williams Tag Q3_22_rating tag was added to gene: SPINK5.
Epidermolysis bullosa and congenital skin fragility v1.53 EGFR Arina Puzriakova commented on gene: EGFR
Epidermolysis bullosa and congenital skin fragility v1.53 DSG3 Arina Puzriakova commented on gene: DSG3
Epidermolysis bullosa and congenital skin fragility v1.52 EGFR Arina Puzriakova Source Expert Review Red was added to EGFR.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Epidermolysis bullosa and congenital skin fragility v1.52 DSG3 Arina Puzriakova Source Expert Review Red was added to DSG3.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Epidermolysis bullosa and congenital skin fragility v1.51 SPINK5 Arina Puzriakova commented on gene: SPINK5
Epidermolysis bullosa and congenital skin fragility v1.51 SPINK5 Arina Puzriakova Tag Q3_22_expert_review tag was added to gene: SPINK5.
Epidermolysis bullosa and congenital skin fragility v1.51 COL17A1 Arina Puzriakova Phenotypes for gene: COL17A1 were changed from Epidermolysis bullosa, junctional, localisata variant, OMIM:226650; Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650 to Epidermolysis bullosa, junctional 4, intermediate, OMIM:619787
Epidermolysis bullosa and congenital skin fragility v1.50 CARD14 Arina Puzriakova Phenotypes for gene: CARD14 were changed from Pityriasis rubra pilaris, 173200; PRP; thick scales on the scalp and areas of superficial peeling on the face, palms, soles, and genital region to Pityriasis rubra pilaris, OMIM:173200; Thick scales on the scalp and areas of superficial peeling on the face, palms, soles, and genital region
Epidermolysis bullosa and congenital skin fragility v1.49 NAXD Ivone Leong Deleted their comment
Epidermolysis bullosa and congenital skin fragility v1.49 NAXD Ivone Leong edited their review of gene: NAXD: Added comment: After consulting the clinical team at Genomics England, this gene has been added to this panel with an Amber rating (pending more evidence) as there is a skin phenotype is present in patients and may be the first things the patient is being seen for (PMID: 33224489).; Changed rating: AMBER
Epidermolysis bullosa and congenital skin fragility v1.49 NAXD Ivone Leong Tag Q2_21_rating was removed from gene: NAXD.
Tag watchlist tag was added to gene: NAXD.
Epidermolysis bullosa and congenital skin fragility v1.49 NAXD Ivone Leong Entity copied from White matter disorders and cerebral calcification - narrow panel v1.189
Epidermolysis bullosa and congenital skin fragility v1.49 NAXD Ivone Leong gene: NAXD was added
gene: NAXD was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber,Expert list
Q2_21_rating tags were added to gene: NAXD.
Mode of inheritance for gene: NAXD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAXD were set to 30576410; 33224489; 31755961
Phenotypes for gene: NAXD were set to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, OMIM:618321
Epidermolysis bullosa and congenital skin fragility v1.48 EGFR Ivone Leong Phenotypes for gene: EGFR were changed from to ?Inflammatory skin and bowel disease, neonatal, 2, OMIM:616069
Epidermolysis bullosa and congenital skin fragility v1.47 EGFR Ivone Leong Publications for gene: EGFR were set to
Epidermolysis bullosa and congenital skin fragility v1.46 DSG3 Ivone Leong Phenotypes for gene: DSG3 were changed from mucosal fragility to Blistering, acantholytic, of oral and laryngeal mucosa, OMIM:619226
Epidermolysis bullosa and congenital skin fragility v1.45 DSC3 Ivone Leong Phenotypes for gene: DSC3 were changed from to ?Hypotrichosis and recurrent skin vesicles, OMIM:613102
Epidermolysis bullosa and congenital skin fragility v1.44 DSC3 Ivone Leong Publications for gene: DSC3 were set to
Epidermolysis bullosa and congenital skin fragility v1.43 CD151 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
[Blood group, Raph], 179620;Nephropathy with pretibial epidermolysis bullosa and deafness, 609057;Kindler syndrome-like epidermolysis bullosa
Epidermolysis bullosa and congenital skin fragility v1.43 CD151 Ivone Leong Phenotypes for gene: CD151 were changed from [Blood group, Raph], 179620; Nephropathy with pretibial epidermolysis bullosa and deafness, 609057; Kindler syndrome-like epidermolysis bullosa to Nephropathy with pretibial epidermolysis bullosa and deafness, OMIM:609057
Epidermolysis bullosa and congenital skin fragility v1.42 ATP2A2 Ivone Leong Phenotypes for gene: ATP2A2 were changed from to Darier disease, OMIM:124200
Epidermolysis bullosa and congenital skin fragility v1.41 TGM5 Ivone Leong Phenotypes for gene: TGM5 were changed from Peeling skin syndrome 2, OMIM:609796; Acral peeling skin sydrome to Peeling skin syndrome 2, OMIM:609796; Acral peeling skin sydrome,MONDO:0012345
Epidermolysis bullosa and congenital skin fragility v1.40 TGM5 Ivone Leong Phenotypes for gene: TGM5 were changed from Peeling skin syndrome 2, 609796; Acral peeling skin sydrome to Peeling skin syndrome 2, OMIM:609796; Acral peeling skin sydrome
Epidermolysis bullosa and congenital skin fragility v1.39 SPINK5 Ivone Leong Phenotypes for gene: SPINK5 were changed from to Netherton syndrome, OMIM:256500
Epidermolysis bullosa and congenital skin fragility v1.38 SPINK5 Ivone Leong Publications for gene: SPINK5 were set to
Epidermolysis bullosa and congenital skin fragility v1.37 SLC39A4 Ivone Leong Phenotypes for gene: SLC39A4 were changed from to Acrodermatitis enteropathica, OMIM:201100
Epidermolysis bullosa and congenital skin fragility v1.36 SERPINB8 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Peeling skin HP:0040189;erythema HP:0010783;palmoplantar hyperkeratosis HP:0007530;Peeling skin syndrome 5, 617115;Ichthyosis HP:0008064;skin erosions HP:0200041
Epidermolysis bullosa and congenital skin fragility v1.36 SERPINB8 Ivone Leong Phenotypes for gene: SERPINB8 were changed from Peeling skin HP:0040189; erythema HP:0010783; palmoplantar hyperkeratosis HP:0007530; Peeling skin syndrome 5, 617115; Ichthyosis HP:0008064; skin erosions HP:0200041 to Peeling skin syndrome 5, OMIM:617115
Epidermolysis bullosa and congenital skin fragility v1.35 PLEC Ivone Leong Added comment: Comment on phenotypes: Previous 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
Epidermolysis bullosa and congenital skin fragility v1.35 PLEC Ivone Leong Phenotypes for gene: PLEC were changed from 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 to 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
Epidermolysis bullosa and congenital skin fragility v1.34 PKP1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ectodermal dysplasia/skin fragility syndrome, 604536;McGrath Syndrome;Ectodermal dysplasia-skin fragility syndrome, but classified as Epidermolysis bullosa
Epidermolysis bullosa and congenital skin fragility v1.34 PKP1 Ivone Leong Phenotypes for gene: PKP1 were changed from Ectodermal dysplasia/skin fragility syndrome, 604536; McGrath Syndrome; Ectodermal dysplasia-skin fragility syndrome, but classified as Epidermolysis bullosa to Ectodermal dysplasia/skin fragility syndrome, OMIM:604536
Epidermolysis bullosa and congenital skin fragility v1.33 LAMC2 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epidermolysis bullosa, junctional, Herlitz type, 226700;Epidermolysis bullosa, junctional, non-Herlitz type, 226650;Junctional Epidermolysis Bullosa;Severe generalised junctional Epidermolysis bullosa (occasionally intermediate)
Epidermolysis bullosa and congenital skin fragility v1.33 LAMC2 Ivone Leong Phenotypes for gene: LAMC2 were changed from Epidermolysis bullosa, junctional, Herlitz type, 226700; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Junctional Epidermolysis Bullosa; Severe generalised junctional Epidermolysis bullosa (occasionally intermediate) to Epidermolysis bullosa, junctional, Herlitz type, OMIM:226700; Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650
Epidermolysis bullosa and congenital skin fragility v1.32 LAMB3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epidermolysis bullosa, junctional, Herlitz type, 226700;Epidermolysis bullosa, junctional, non-Herlitz type, 226650;Junctional Epidermolysis Bullosa;Severe generalised junctional Epidermolysis bullosa (occasionally intermediate)
Epidermolysis bullosa and congenital skin fragility v1.32 LAMB3 Ivone Leong Phenotypes for gene: LAMB3 were changed from Epidermolysis bullosa, junctional, Herlitz type, 226700; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Junctional Epidermolysis Bullosa; Severe generalised junctional Epidermolysis bullosa (occasionally intermediate) to Epidermolysis bullosa, junctional, Herlitz type, OMIM:226700; Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650
Epidermolysis bullosa and congenital skin fragility v1.31 LAMA3 Ivone Leong Added comment: Comment on phenotypes: Previous 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
Epidermolysis bullosa and congenital skin fragility v1.31 LAMA3 Ivone Leong Phenotypes for gene: LAMA3 were changed from 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 to Epidermolysis bullosa, junctional, Herlitz type, OMIM:226700; Epidermolysis bullosa, generalized atrophic benign, OMIM:226650; Laryngoonychocutaneous syndrome, OMIM:245660
Epidermolysis bullosa and congenital skin fragility v1.30 KRT5 Ivone Leong Added comment: Comment on phenotypes: Previous 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
Epidermolysis bullosa and congenital skin fragility v1.30 KRT5 Ivone Leong Phenotypes for gene: KRT5 were changed from 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 to 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
Epidermolysis bullosa and congenital skin fragility v1.29 KRT14 Ivone Leong Added comment: Comment on phenotypes: Previous 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
Epidermolysis bullosa and congenital skin fragility v1.29 KRT14 Ivone Leong Phenotypes for gene: KRT14 were changed from 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 to 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
Epidermolysis bullosa and congenital skin fragility v1.28 KRT10 Ivone Leong Phenotypes for gene: KRT10 were changed from EHK; Epidermolytic hyperkeratosis, 113800 to Epidermolytic hyperkeratosis, OMIM:113800
Epidermolysis bullosa and congenital skin fragility v1.27 KRT1 Ivone Leong Phenotypes for gene: KRT1 were changed from EHK; Epidermolytic hyperkeratosis, 113800; Islands of superficial peeling on the skin of the trunk and the extensor surface of the legs to Epidermolytic hyperkeratosis, OMIM:113800
Epidermolysis bullosa and congenital skin fragility v1.26 KLHL24 Ivone Leong Phenotypes for gene: KLHL24 were changed from Epidermolysis bullosa simplex (autosomal dominant) to Epidermolysis bullosa simplex, generalized, with scarring and hair loss, OMIM:617294
Epidermolysis bullosa and congenital skin fragility v1.25 KLHL24 Ivone Leong Added comment: Comment on publications: Previous publications:
99(6):1395-1404. J Invest Dermatol. 2017 Jan 19. pii: S0022-202X(17)30032-5;48(12):1508-1516. Am J Hum Genet. 2016 Dec 1;Nat Genet. 2016 Dec
Epidermolysis bullosa and congenital skin fragility v1.25 KLHL24 Ivone Leong Publications for gene: KLHL24 were set to 99(6):1395-1404. J Invest Dermatol. 2017 Jan 19. pii: S0022-202X(17)30032-5; 48(12):1508-1516. Am J Hum Genet. 2016 Dec 1; Nat Genet. 2016 Dec
Epidermolysis bullosa and congenital skin fragility v1.24 JUP Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Severe generalised Epidermolysis bullosa simplex;Naxos disease, 601214
Epidermolysis bullosa and congenital skin fragility v1.24 JUP Ivone Leong Phenotypes for gene: JUP were changed from Severe generalised Epidermolysis bullosa simplex; Naxos disease, 601214 to Severe generalised Epidermolysis bullosa simplex
Epidermolysis bullosa and congenital skin fragility v1.23 ITGB4 Ivone Leong Added comment: Comment on phenotypes: Previous 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
Epidermolysis bullosa and congenital skin fragility v1.23 ITGB4 Ivone Leong Phenotypes for gene: ITGB4 were changed from Generalised intermediate junctional Epidermolysis bullosa; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Epidermolysis bullosa, junctional, with pyloric atresia, 226730; Epidermolysis bullosa with pyloric atresia to Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650; Epidermolysis bullosa, junctional, with pyloric atresia, OMIM:226730
Epidermolysis bullosa and congenital skin fragility v1.22 ITGA6 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epidermolysis bullosa with pyloric atresia;Epidermolysis Bullosa with Pyloric Atresia;Epidermolysis bullosa, junctional, with pyloric stenosis, 226730;generalised intermediate junctional Epidermolysis bullosa
Epidermolysis bullosa and congenital skin fragility v1.22 ITGA6 Ivone Leong Phenotypes for gene: ITGA6 were changed from Epidermolysis bullosa with pyloric atresia; Epidermolysis Bullosa with Pyloric Atresia; Epidermolysis bullosa, junctional, with pyloric stenosis, 226730; generalised intermediate junctional Epidermolysis bullosa to Epidermolysis bullosa, junctional, with pyloric stenosis, OMIM:226730
Epidermolysis bullosa and congenital skin fragility v1.21 ITGA3 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epidermolysis bullosa, nonspecific, autosomal recessive, 615028;Junctional Epidermolysis bullosa;Interstitial Lung disease, Nephrotic syndrome and Epidermolysis bullosa syndrome
Epidermolysis bullosa and congenital skin fragility v1.21 ITGA3 Ivone Leong Phenotypes for gene: ITGA3 were changed from Epidermolysis bullosa, nonspecific, autosomal recessive, 615028; Junctional Epidermolysis bullosa; Interstitial Lung disease, Nephrotic syndrome and Epidermolysis bullosa syndrome to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, OMIM:614748
Epidermolysis bullosa and congenital skin fragility v1.20 IKBKG Ivone Leong Phenotypes for gene: IKBKG were changed from to Incontinentia pigmenti, OMIM:308300
Epidermolysis bullosa and congenital skin fragility v1.19 FLG2 Ivone Leong Phenotypes for gene: FLG2 were changed from to Peeling skin syndrome 6, OMIM:618084
Epidermolysis bullosa and congenital skin fragility v1.18 FERMT1 Ivone Leong Phenotypes for gene: FERMT1 were changed from Kindler syndrome (a separate category of Epidermolysis bullosa); Kindler syndrome,173650 to Kindler syndrome, OMIM:173650
Epidermolysis bullosa and congenital skin fragility v1.17 EXPH5 Ivone Leong Phenotypes for gene: EXPH5 were changed from Epidermolysis bullosa, nonspecific, autosomal recessive, 615028; Epidermolysis bullosa simplex to Epidermolysis bullosa, nonspecific, autosomal recessive, OMIM:615028
Epidermolysis bullosa and congenital skin fragility v1.16 DST Ivone Leong Phenotypes for gene: DST were changed from Epidermolysis bullosa simplex; Epidermolysis bullosa simplex, autosomal recessive 2, 615425 to Epidermolysis bullosa simplex, autosomal recessive 2, OMIM:615425
Epidermolysis bullosa and congenital skin fragility v1.15 DSP Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Epidermolysis bullosa, lethal acantholytic, 609638;Severe generalised Epidermolysis bullosa simplex;Skin fragility-woolly hair syndrome,607655;Lethal acantholytic epidermolysis bullosa
Epidermolysis bullosa and congenital skin fragility v1.15 DSP Ivone Leong Phenotypes for gene: DSP were changed from Epidermolysis bullosa, lethal acantholytic, 609638; Severe generalised Epidermolysis bullosa simplex; Skin fragility-woolly hair syndrome,607655; Lethal acantholytic epidermolysis bullosa to Epidermolysis bullosa, lethal acantholytic, OMIM:609638
Epidermolysis bullosa and congenital skin fragility v1.14 DSG1 Ivone Leong Phenotypes for gene: DSG1 were changed from to Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, OMIM:615508; Keratosis palmoplantaris striata I, AD, OMIM:148700
Epidermolysis bullosa and congenital skin fragility v1.13 CSTA Ivone Leong Publications for gene: CSTA were set to 23534700; 26684698; 25400170; PMID: 21944047
Epidermolysis bullosa and congenital skin fragility v1.12 CSTA Ivone Leong Added comment: Comment on phenotypes: Previous 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
Epidermolysis bullosa and congenital skin fragility v1.12 CSTA Ivone Leong Phenotypes for gene: CSTA were changed from 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 to Peeling skin syndrome 4, OMIM:607936
Epidermolysis bullosa and congenital skin fragility v1.11 COL7A1 Ivone Leong Added comment: Comment on phenotypes: Previous 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
Epidermolysis bullosa and congenital skin fragility v1.11 COL7A1 Ivone Leong Phenotypes for gene: COL7A1 were changed from 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 to 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
Epidermolysis bullosa and congenital skin fragility v1.10 COL17A1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Generalised intermediate junctional Epidermolysis bullosa;Epidermolysis bullosa, junctional, non-Herlitz type, 226650;Junctional Epidermolysis Bullosa
Epidermolysis bullosa and congenital skin fragility v1.10 COL17A1 Ivone Leong Phenotypes for gene: COL17A1 were changed from Generalised intermediate junctional Epidermolysis bullosa; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Junctional Epidermolysis Bullosa to Epidermolysis bullosa, junctional, localisata variant, OMIM:226650; Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650
Epidermolysis bullosa and congenital skin fragility v1.9 CDSN Ivone Leong Added comment: Comment on phenotypes: Previous 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
Epidermolysis bullosa and congenital skin fragility v1.9 CDSN Ivone Leong Phenotypes for gene: CDSN were changed from 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 to Peeling skin syndrome 1, OMIM:270300
Epidermolysis bullosa and congenital skin fragility v1.8 CDSN Ivone Leong Publications for gene: CDSN were set to 21191406; 22146835; 23957618; PMID: 20691404
Epidermolysis bullosa and congenital skin fragility v1.7 CAST Ivone Leong Added comment: Comment on phenotypes: Previous 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
Epidermolysis bullosa and congenital skin fragility v1.7 CAST Ivone Leong Phenotypes for gene: CAST were changed from 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 to Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, OMIM:616295
Epidermolysis bullosa and congenital skin fragility v1.6 CAST Ivone Leong Publications for gene: CAST were set to PMID: 25683118
Epidermolysis bullosa and congenital skin fragility v1.5 ATP2C1 Ivone Leong Phenotypes for gene: ATP2C1 were changed from to Hailey-Hailey disease, OMIM:169600
Epidermolysis bullosa and congenital skin fragility v1.4 Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Panel version has been signed off
Epidermolysis bullosa and congenital skin fragility v1.3 SPINK5 Zornitza Stark reviewed gene: SPINK5: Rating: RED; Mode of pathogenicity: None; Publications: 27905021; Phenotypes: Netherton syndrome (MIM#256500); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa and congenital skin fragility v1.3 DSG3 Zornitza Stark reviewed gene: DSG3: Rating: RED; Mode of pathogenicity: None; Publications: 30528827; Phenotypes: Mucosal blistering; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa and congenital skin fragility v1.3 EGFR Zornitza Stark reviewed gene: EGFR: Rating: RED; Mode of pathogenicity: None; Publications: 24691054; Phenotypes: Inflammatory skin and bowel disease, neonatal, 2 (MIM#616069); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa and congenital skin fragility v1.3 Sarah Leigh Panel version has been signed off
Epidermolysis bullosa and congenital skin fragility v1.0 Catherine Snow promoted panel to version 1.0
Epidermolysis bullosa and congenital skin fragility v0.27 Catherine Snow List of related panels changed from to R164
Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Epidermolysis bullosa and congenital skin fragility v0.26 PLOD3 Catherine Snow changed review comment from: PMID: 30463024 reports on an individual with a homozygous missense mutation in PLOD3. In addition to skin blistering, the proband demonstrated extensive joint contractures, skeletal abnormalities and reduced growth.
PMID: 18834968 identified a compound heterozygote in PLOD3 with recessive inheritance. The patient reported had an extremely complex phenotype, including deafness, myopia, arterial ruptures, osteopenia, joint contractures, bone fractures, and cataracts, as well as clinically observed skin blistering, apparently reflecting the deficiency in both lysyl hydroxylation and glycosylation of hydroxylysyl residues.
As only two variants currently reported PLOD3 rated as Amber; to: PMID: 30463024 reports on an individual with a homozygous missense mutation in PLOD3. In addition to skin blistering, the proband demonstrated extensive joint contractures, skeletal abnormalities and reduced growth.
PMID: 18834968 identified a compound heterozygote in PLOD3 with recessive inheritance. The patient reported had an extremely complex phenotype, including deafness, myopia, arterial ruptures, osteopenia, joint contractures, bone fractures, and cataracts, as well as clinically observed skin blistering, apparently reflecting the deficiency in both lysyl hydroxylation and glycosylation of hydroxylysyl residues.
As only two variants currently reported PLOD3 rated as Amber.
Epidermolysis bullosa and congenital skin fragility v0.26 PLOD3 Catherine Snow commented on gene: PLOD3: PMID: 30463024 reports on an individual with a homozygous missense mutation in PLOD3. In addition to skin blistering, the proband demonstrated extensive joint contractures, skeletal abnormalities and reduced growth.
PMID: 18834968 identified a compound heterozygote in PLOD3 with recessive inheritance. The patient reported had an extremely complex phenotype, including deafness, myopia, arterial ruptures, osteopenia, joint contractures, bone fractures, and cataracts, as well as clinically observed skin blistering, apparently reflecting the deficiency in both lysyl hydroxylation and glycosylation of hydroxylysyl residues.
As only two variants currently reported PLOD3 rated as Amber
Epidermolysis bullosa and congenital skin fragility v0.26 PLOD3 Catherine Snow Publications for gene: PLOD3 were set to 30463024
Epidermolysis bullosa and congenital skin fragility v0.25 PLOD3 Catherine Snow Publications for gene: PLOD3 were set to
Epidermolysis bullosa and congenital skin fragility v0.24 DSC3 Catherine Snow edited their review of gene: DSC3: Added comment: Ayub et al. (PMID:19765682) identified a homozygous nonsense mutation (c.2129T>G; p.Leu710*) in DSC3 in four siblings from a consanguineous Afghani family who presented with a new genodermatosis affecting hair and skin. PMID:31790667 identifies a further Egyptian individual with skin fragility and Hypotrichosis. As less than 3 unrelated individuals identified DSC3 will currently be rated as Amber.; Changed publications: 19765682, 31790667; Changed phenotypes: ereditary Hypotrichosis, Recurrent Skin Vesicles, skin fragility; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Epidermolysis bullosa and congenital skin fragility v0.24 SPINK5 Catherine Snow edited their review of gene: SPINK5: Added comment: Following discussion with the Genomics England clinical team SPINK5 can be classified as Green.; Changed rating: GREEN
Epidermolysis bullosa and congenital skin fragility v0.24 FLG2 Catherine Snow edited their review of gene: FLG2: Added comment: Following discussion with the Genomics England clinical team FLG2 can be classified as Green.; Changed rating: GREEN
Epidermolysis bullosa and congenital skin fragility v0.24 ATP2C1 Catherine Snow edited their review of gene: ATP2C1: Added comment: Following discussion with the Genomics England clinical team ATP2C1 can be classified as Green.; Changed rating: GREEN
Epidermolysis bullosa and congenital skin fragility v0.24 DSG1 Catherine Snow edited their review of gene: DSG1: Added comment: Following discussion with the Genomics England clinical team DSG1 can be classified as Green.; Changed rating: GREEN
Epidermolysis bullosa and congenital skin fragility v0.24 SLC39A4 Catherine Snow edited their review of gene: SLC39A4: Added comment: Following discussion with the Genomics England clinical team SLC39A4 can be classified as Green.; Changed rating: GREEN
Epidermolysis bullosa and congenital skin fragility v0.24 IKBKG Catherine Snow edited their review of gene: IKBKG: Added comment: Following discussion with the Genomics England clinical team IKBKG can be classified as Green.; Changed rating: GREEN
Epidermolysis bullosa and congenital skin fragility v0.24 KRT10 Catherine Snow edited their review of gene: KRT10: Added comment: Following discussion with the Genomics England clinical team KRT10 can be classified as Green.; Changed rating: GREEN
Epidermolysis bullosa and congenital skin fragility v0.24 KRT1 Catherine Snow edited their review of gene: KRT1: Added comment: Following discussion with the Genomics England clinical team KRT1 can be classified as Green.; Changed rating: GREEN
Epidermolysis bullosa and congenital skin fragility v0.24 SPINK5 Catherine Snow Classified gene: SPINK5 as Green List (high evidence)
Epidermolysis bullosa and congenital skin fragility v0.24 SPINK5 Catherine Snow Gene: spink5 has been classified as Green List (High Evidence).
Epidermolysis bullosa and congenital skin fragility v0.23 FLG2 Catherine Snow Classified gene: FLG2 as Green List (high evidence)
Epidermolysis bullosa and congenital skin fragility v0.23 FLG2 Catherine Snow Gene: flg2 has been classified as Green List (High Evidence).
Epidermolysis bullosa and congenital skin fragility v0.23 FLG2 Catherine Snow Classified gene: FLG2 as Green List (high evidence)
Epidermolysis bullosa and congenital skin fragility v0.23 FLG2 Catherine Snow Gene: flg2 has been classified as Green List (High Evidence).
Epidermolysis bullosa and congenital skin fragility v0.22 ATP2C1 Catherine Snow Classified gene: ATP2C1 as Green List (high evidence)
Epidermolysis bullosa and congenital skin fragility v0.22 ATP2C1 Catherine Snow Gene: atp2c1 has been classified as Green List (High Evidence).
Epidermolysis bullosa and congenital skin fragility v0.21 DSG1 Catherine Snow Classified gene: DSG1 as Green List (high evidence)
Epidermolysis bullosa and congenital skin fragility v0.21 DSG1 Catherine Snow Gene: dsg1 has been classified as Green List (High Evidence).
Epidermolysis bullosa and congenital skin fragility v0.20 SLC39A4 Catherine Snow Classified gene: SLC39A4 as Green List (high evidence)
Epidermolysis bullosa and congenital skin fragility v0.20 SLC39A4 Catherine Snow Gene: slc39a4 has been classified as Green List (High Evidence).
Epidermolysis bullosa and congenital skin fragility v0.19 IKBKG Catherine Snow Classified gene: IKBKG as Green List (high evidence)
Epidermolysis bullosa and congenital skin fragility v0.19 IKBKG Catherine Snow Gene: ikbkg has been classified as Green List (High Evidence).
Epidermolysis bullosa and congenital skin fragility v0.18 KRT10 Catherine Snow Classified gene: KRT10 as Green List (high evidence)
Epidermolysis bullosa and congenital skin fragility v0.18 KRT10 Catherine Snow Gene: krt10 has been classified as Green List (High Evidence).
Epidermolysis bullosa and congenital skin fragility v0.17 KRT1 Catherine Snow Classified gene: KRT1 as Green List (high evidence)
Epidermolysis bullosa and congenital skin fragility v0.17 KRT1 Catherine Snow Gene: krt1 has been classified as Green List (High Evidence).
Epidermolysis bullosa and congenital skin fragility v0.16 DSG3 Catherine Snow Publications for gene: DSG3 were set to
Epidermolysis bullosa and congenital skin fragility v0.15 DSG3 Catherine Snow changed review comment from: Kim et al (PMID: 30528827) identified a1-year-old Korean girl having recurrent blisters and erosions in the oral mucosa since birth, who had a single homozygous mutation in the DSG3 gene (chromosome 18: 29,041,235 for c.859C>T). Both parents were found to be hetrozygous.

DSG3 also associated with Pemphigus vulgaris (PV) a severe blistering disorder of the skin and mucous membranes. PMID: 16403096 Capon et al provided evidence of an association between desmoglein 3 haplotypes and pemphigus vulgaris however in a later paper from the same group PMID: 19678820 concluded that DSG3 coding variants don't play a role in PV susceptibility and that any association that was detected was due to the presence of regulatory rather than coding SNPs.; to: Kim et al (PMID: 30528827) identified a1-year-old Korean girl having recurrent blisters and erosions in the oral mucosa since birth, who had a single homozygous mutation in the DSG3 gene (chromosome 18: 29,041,235 for c.859C>T). Both parents were found to be hetrozygous.

DSG3 also associated with Pemphigus vulgaris (PV) a severe blistering disorder of the skin and mucous membranes. Capon et al (PMID: 16403096) provided evidence of an association between desmoglein 3 haplotypes and pemphigus vulgaris however in a later paper from the same group (PMID: 19678820) concluded that DSG3 coding variants don't play a role in PV susceptibility and that any association that was detected was due to the presence of regulatory rather than coding SNPs.
Epidermolysis bullosa and congenital skin fragility v0.15 DSG3 Catherine Snow edited their review of gene: DSG3: Added comment: Kim et al (PMID: 30528827) identified a1-year-old Korean girl having recurrent blisters and erosions in the oral mucosa since birth, who had a single homozygous mutation in the DSG3 gene (chromosome 18: 29,041,235 for c.859C>T). Both parents were found to be hetrozygous.

DSG3 also associated with Pemphigus vulgaris (PV) a severe blistering disorder of the skin and mucous membranes. PMID: 16403096 Capon et al provided evidence of an association between desmoglein 3 haplotypes and pemphigus vulgaris however in a later paper from the same group PMID: 19678820 concluded that DSG3 coding variants don't play a role in PV susceptibility and that any association that was detected was due to the presence of regulatory rather than coding SNPs.; Changed publications: PMID: 30528827, PMID: 16403096, PMID: 19678820
Epidermolysis bullosa and congenital skin fragility v0.15 SPINK5 Catherine Snow reviewed gene: SPINK5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Epidermolysis bullosa and congenital skin fragility v0.15 CTSB Catherine Snow reviewed gene: CTSB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Epidermolysis bullosa and congenital skin fragility v0.15 FLG2 Catherine Snow reviewed gene: FLG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Epidermolysis bullosa and congenital skin fragility v0.15 EGFR Catherine Snow reviewed gene: EGFR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Epidermolysis bullosa and congenital skin fragility v0.15 ATP2C1 Catherine Snow reviewed gene: ATP2C1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Epidermolysis bullosa and congenital skin fragility v0.15 ATP2A2 Catherine Snow reviewed gene: ATP2A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Epidermolysis bullosa and congenital skin fragility v0.15 DSG1 Catherine Snow reviewed gene: DSG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Epidermolysis bullosa and congenital skin fragility v0.15 SLC39A7 Catherine Snow reviewed gene: SLC39A7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Epidermolysis bullosa and congenital skin fragility v0.15 SLC39A4 Catherine Snow reviewed gene: SLC39A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Epidermolysis bullosa and congenital skin fragility v0.15 IKBKG Catherine Snow reviewed gene: IKBKG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Epidermolysis bullosa and congenital skin fragility v0.15 KRT10 Catherine Snow reviewed gene: KRT10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Epidermolysis bullosa and congenital skin fragility v0.15 KRT1 Catherine Snow reviewed gene: KRT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Epidermolysis bullosa and congenital skin fragility v0.15 PLOD3 Catherine Snow reviewed gene: PLOD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Epidermolysis bullosa and congenital skin fragility v0.15 CD151 Catherine Snow reviewed gene: CD151: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Epidermolysis bullosa and congenital skin fragility v0.15 DSG3 Catherine Snow reviewed gene: DSG3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Epidermolysis bullosa and congenital skin fragility v0.15 DSC3 Catherine Snow reviewed gene: DSC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Epidermolysis bullosa and congenital skin fragility v0.14 SPINK5 Catherine Snow gene: SPINK5 was added
gene: SPINK5 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber
Mode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa and congenital skin fragility v0.14 CTSB Catherine Snow gene: CTSB was added
gene: CTSB was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber
Mode of inheritance for gene: CTSB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Epidermolysis bullosa and congenital skin fragility v0.14 FLG2 Catherine Snow gene: FLG2 was added
gene: FLG2 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber
Mode of inheritance for gene: FLG2 was set to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa and congenital skin fragility v0.14 EGFR Catherine Snow gene: EGFR was added
gene: EGFR was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber
Mode of inheritance for gene: EGFR was set to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa and congenital skin fragility v0.14 ATP2C1 Catherine Snow gene: ATP2C1 was added
gene: ATP2C1 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber
Mode of inheritance for gene: ATP2C1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Epidermolysis bullosa and congenital skin fragility v0.14 ATP2A2 Catherine Snow gene: ATP2A2 was added
gene: ATP2A2 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber
Mode of inheritance for gene: ATP2A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Epidermolysis bullosa and congenital skin fragility v0.14 DSG1 Catherine Snow gene: DSG1 was added
gene: DSG1 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber
Mode of inheritance for gene: DSG1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Epidermolysis bullosa and congenital skin fragility v0.14 SLC39A7 Catherine Snow gene: SLC39A7 was added
gene: SLC39A7 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber
Mode of inheritance for gene: SLC39A7 was set to
Epidermolysis bullosa and congenital skin fragility v0.14 SLC39A4 Catherine Snow gene: SLC39A4 was added
gene: SLC39A4 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber
Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa and congenital skin fragility v0.14 IKBKG Catherine Snow gene: IKBKG was added
gene: IKBKG was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber
Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Epidermolysis bullosa and congenital skin fragility v0.14 KRT10 Catherine Snow Source Expert Review Amber was added to KRT10.
Mode of inheritance for gene KRT10 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Epidermolysis bullosa and congenital skin fragility v0.14 KRT1 Catherine Snow Source Expert Review Amber was added to KRT1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Epidermolysis bullosa and congenital skin fragility v0.14 PLOD3 Catherine Snow gene: PLOD3 was added
gene: PLOD3 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber
Mode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa and congenital skin fragility v0.14 CD151 Catherine Snow Source Expert Review Amber was added to CD151.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Epidermolysis bullosa and congenital skin fragility v0.14 DSG3 Catherine Snow Source Expert Review Amber was added to DSG3.
Mode of inheritance for gene DSG3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Epidermolysis bullosa and congenital skin fragility v0.14 DSC3 Catherine Snow gene: DSC3 was added
gene: DSC3 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber
Mode of inheritance for gene: DSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa and congenital skin fragility v0.11 SERPINB8 Rebecca Foulger commented on gene: SERPINB8: Note from John McGrath (email correspondance): Several of the green genes – CAST, CDSN, CSTA, SERPINB8 are rather extending the definition of skin fragility into skin peeling.
Epidermolysis bullosa and congenital skin fragility v0.11 CSTA Rebecca Foulger commented on gene: CSTA: Note from John McGrath (email correspondance): Several of the green genes – CAST, CDSN, CSTA, SERPINB8 are rather extending the definition of skin fragility into skin peeling.
Epidermolysis bullosa and congenital skin fragility v0.11 CDSN Rebecca Foulger edited their review of gene: CDSN: Added comment: Note from John McGrath (email correspondance): Several of the green genes – CAST, CDSN, CSTA, SERPINB8 are rather extending the definition of skin fragility into skin peeling.; Changed phenotypes: Peeling skin syndrome 1, 270300, PSS1
Epidermolysis bullosa and congenital skin fragility v0.11 CAST Rebecca Foulger commented on gene: CAST: Note from John McGrath (email correspondance): Several of the green genes – CAST, CDSN, CSTA, SERPINB8 are rather extending the definition of skin fragility into skin peeling.
Epidermolysis bullosa and congenital skin fragility v0.11 DSG3 John McGrath reviewed gene: DSG3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Epidermolysis bullosa and congenital skin fragility v0.10 DSG3 Rebecca Foulger gene: DSG3 was added
gene: DSG3 was added to Epidermolysis bullosa and congenital skin fragility. Sources: NHS GMS
Mode of inheritance for gene: DSG3 was set to
Phenotypes for gene: DSG3 were set to mucosal fragility
Epidermolysis bullosa and congenital skin fragility v0.9 KRT2 Rebecca Foulger commented on gene: KRT2
Epidermolysis bullosa and congenital skin fragility v0.9 KRT10 Rebecca Foulger commented on gene: KRT10
Epidermolysis bullosa and congenital skin fragility v0.9 KRT1 Rebecca Foulger commented on gene: KRT1
Epidermolysis bullosa and congenital skin fragility v0.9 LAMA3 Rebecca Foulger commented on gene: LAMA3
Epidermolysis bullosa and congenital skin fragility v0.9 CD151 Rebecca Foulger Added comment: Comment on mode of inheritance: Homozygous CD151 variant reported in patient in PMID:29138120.
Epidermolysis bullosa and congenital skin fragility v0.9 CD151 Rebecca Foulger Mode of inheritance for gene: CD151 was changed from to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa and congenital skin fragility v0.8 CD151 Rebecca Foulger commented on gene: CD151
Epidermolysis bullosa and congenital skin fragility v0.8 CD151 Rebecca Foulger Phenotypes for gene: CD151 were changed from [Blood group, Raph], 179620; Nephropathy with pretibial epidermolysis bullosa and deafness, 609057 to [Blood group, Raph], 179620; Nephropathy with pretibial epidermolysis bullosa and deafness, 609057; Kindler syndrome-like epidermolysis bullosa
Epidermolysis bullosa and congenital skin fragility v0.7 CD151 Rebecca Foulger Publications for gene: CD151 were set to
Epidermolysis bullosa and congenital skin fragility v0.3 TRPV3 Ellen McDonagh gene: TRPV3 was added
gene: TRPV3 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Red
Mode of inheritance for gene: TRPV3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TRPV3 were set to superficial peeling of the skin; Olmsted syndrome, 614594
Epidermolysis bullosa and congenital skin fragility v0.3 TP63 Ellen McDonagh gene: TP63 was added
gene: TP63 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Red
Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TP63 were set to Hay-Wells syndrome, 106260; Red, cracking, peeling skin at birth
Epidermolysis bullosa and congenital skin fragility v0.3 TGM5 Ellen McDonagh gene: TGM5 was added
gene: TGM5 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: TGM5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TGM5 were set to 20164844; 22622422; 16380904; 22036214
Phenotypes for gene: TGM5 were set to Peeling skin syndrome 2, 609796; Acral peeling skin sydrome
Epidermolysis bullosa and congenital skin fragility v0.3 SERPINB8 Ellen McDonagh gene: SERPINB8 was added
gene: SERPINB8 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: SERPINB8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERPINB8 were set to 27476651
Phenotypes for gene: SERPINB8 were set to Peeling skin HP:0040189; erythema HP:0010783; palmoplantar hyperkeratosis HP:0007530; Peeling skin syndrome 5, 617115; Ichthyosis HP:0008064; skin erosions HP:0200041
Epidermolysis bullosa and congenital skin fragility v0.3 PLEC Ellen McDonagh gene: PLEC was added
gene: PLEC was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: PLEC was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PLEC were set to 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
Epidermolysis bullosa and congenital skin fragility v0.3 PKP1 Ellen McDonagh gene: PKP1 was added
gene: PKP1 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: PKP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKP1 were set to 19945625; 25565931; 28182260; 26288439; 24073657
Phenotypes for gene: PKP1 were set to Ectodermal dysplasia/skin fragility syndrome, 604536; McGrath Syndrome; Ectodermal dysplasia-skin fragility syndrome, but classified as Epidermolysis bullosa
Epidermolysis bullosa and congenital skin fragility v0.3 MMP1 Ellen McDonagh gene: MMP1 was added
gene: MMP1 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Red
Mode of inheritance for gene: MMP1 was set to
Phenotypes for gene: MMP1 were set to {Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}, 226600; COPD, rate of decline of lung function in, 606963
Epidermolysis bullosa and congenital skin fragility v0.3 LAMC2 Ellen McDonagh gene: LAMC2 was added
gene: LAMC2 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: LAMC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMC2 were set to 20336083; 11564184; 8012393; 16473856; 10951251; 11810295; 11907499; 8012394
Phenotypes for gene: LAMC2 were set to Epidermolysis bullosa, junctional, Herlitz type, 226700; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Junctional Epidermolysis Bullosa; Severe generalised junctional Epidermolysis bullosa (occasionally intermediate)
Epidermolysis bullosa and congenital skin fragility v0.3 LAMB3 Ellen McDonagh gene: LAMB3 was added
gene: LAMB3 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: LAMB3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMB3 were set to 7706760; 7698759; 8824879; 9205497; 9856855
Phenotypes for gene: LAMB3 were set to Epidermolysis bullosa, junctional, Herlitz type, 226700; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Junctional Epidermolysis Bullosa; Severe generalised junctional Epidermolysis bullosa (occasionally intermediate)
Epidermolysis bullosa and congenital skin fragility v0.3 LAMA3 Ellen McDonagh gene: LAMA3 was added
gene: LAMA3 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: LAMA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMA3 were set to 8586427; 8618022; 20301304; 12915477; 11810295; 8530087
Phenotypes for gene: LAMA3 were set to 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
Epidermolysis bullosa and congenital skin fragility v0.3 KRT5 Ellen McDonagh gene: KRT5 was added
gene: KRT5 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: KRT5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KRT5 were set to 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
Epidermolysis bullosa and congenital skin fragility v0.3 KRT2 Ellen McDonagh gene: KRT2 was added
gene: KRT2 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Red
Mode of inheritance for gene: KRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KRT2 were set to Ichthyosis bullosa of Siemens, 146800; blistering, superficial peeling of the skin, and localized lichenified hyperkeratosis
Epidermolysis bullosa and congenital skin fragility v0.3 KRT14 Ellen McDonagh gene: KRT14 was added
gene: KRT14 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: KRT14 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KRT14 were set to 7506606; 7526933; 12485428; 7525408; 10733662; 16960809; 1720261; 7682883; 7561171; 1717157; 16098032
Phenotypes for gene: KRT14 were set to 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
Epidermolysis bullosa and congenital skin fragility v0.3 KRT10 Ellen McDonagh gene: KRT10 was added
gene: KRT10 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Red
Mode of inheritance for gene: KRT10 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: KRT10 were set to EHK; Epidermolytic hyperkeratosis, 113800
Epidermolysis bullosa and congenital skin fragility v0.3 KRT1 Ellen McDonagh gene: KRT1 was added
gene: KRT1 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Red
Mode of inheritance for gene: KRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KRT1 were set to EHK; Epidermolytic hyperkeratosis, 113800; Islands of superficial peeling on the skin of the trunk and the extensor surface of the legs
Epidermolysis bullosa and congenital skin fragility v0.3 KLHL24 Ellen McDonagh gene: KLHL24 was added
gene: KLHL24 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: KLHL24 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLHL24 were set to 99(6):1395-1404. J Invest Dermatol. 2017 Jan 19. pii: S0022-202X(17)30032-5; 48(12):1508-1516. Am J Hum Genet. 2016 Dec 1; Nat Genet. 2016 Dec
Phenotypes for gene: KLHL24 were set to Epidermolysis bullosa simplex (autosomal dominant)
Mode of pathogenicity for gene: KLHL24 was set to Other - please provide details in the comments
Epidermolysis bullosa and congenital skin fragility v0.3 JUP Ellen McDonagh gene: JUP was added
gene: JUP was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: JUP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JUP were set to 20130592; 19067702; 10902626; 21668431
Phenotypes for gene: JUP were set to Severe generalised Epidermolysis bullosa simplex; Naxos disease, 601214
Epidermolysis bullosa and congenital skin fragility v0.3 ITGB4 Ellen McDonagh gene: ITGB4 was added
gene: ITGB4 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITGB4 were set to 18348258; 10792571; 7545057; 10484780
Phenotypes for gene: ITGB4 were set to Generalised intermediate junctional Epidermolysis bullosa; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Epidermolysis bullosa, junctional, with pyloric atresia, 226730; Epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa and congenital skin fragility v0.3 ITGA6 Ellen McDonagh gene: ITGA6 was added
gene: ITGA6 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: ITGA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITGA6 were set to 27186702; 9185503; 26739954; 26817667
Phenotypes for gene: ITGA6 were set to Epidermolysis bullosa with pyloric atresia; Epidermolysis Bullosa with Pyloric Atresia; Epidermolysis bullosa, junctional, with pyloric stenosis, 226730; generalised intermediate junctional Epidermolysis bullosa
Epidermolysis bullosa and congenital skin fragility v0.3 ITGA3 Ellen McDonagh gene: ITGA3 was added
gene: ITGA3 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: ITGA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITGA3 were set to 26854491; 23114595; 27717396; 22512483; 26719633
Phenotypes for gene: ITGA3 were set to Epidermolysis bullosa, nonspecific, autosomal recessive, 615028; Junctional Epidermolysis bullosa; Interstitial Lung disease, Nephrotic syndrome and Epidermolysis bullosa syndrome
Epidermolysis bullosa and congenital skin fragility v0.3 FERMT1 Ellen McDonagh gene: FERMT1 was added
gene: FERMT1 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: FERMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FERMT1 were set to 12789646; 27489438; 27862150; 12668616
Phenotypes for gene: FERMT1 were set to Kindler syndrome (a separate category of Epidermolysis bullosa); Kindler syndrome,173650
Epidermolysis bullosa and congenital skin fragility v0.3 EXPH5 Ellen McDonagh gene: EXPH5 was added
gene: EXPH5 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: EXPH5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXPH5 were set to 23176819; 27730671; 26719633
Phenotypes for gene: EXPH5 were set to Epidermolysis bullosa, nonspecific, autosomal recessive, 615028; Epidermolysis bullosa simplex
Epidermolysis bullosa and congenital skin fragility v0.3 EDA Ellen McDonagh gene: EDA was added
gene: EDA was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Red
Mode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EDA were set to Skin peeling/scaling (newborn); Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100
Epidermolysis bullosa and congenital skin fragility v0.3 DST Ellen McDonagh gene: DST was added
gene: DST was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: DST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DST were set to 27669234; 26719633; 25059916; 22113475; 20164846
Phenotypes for gene: DST were set to Epidermolysis bullosa simplex; Epidermolysis bullosa simplex, autosomal recessive 2, 615425
Epidermolysis bullosa and congenital skin fragility v0.3 DSP Ellen McDonagh gene: DSP was added
gene: DSP was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: DSP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DSP were set to Epidermolysis bullosa, lethal acantholytic, 609638; Severe generalised Epidermolysis bullosa simplex; Skin fragility-woolly hair syndrome,607655; Lethal acantholytic epidermolysis bullosa
Epidermolysis bullosa and congenital skin fragility v0.3 CSTA Ellen McDonagh gene: CSTA was added
gene: CSTA was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: CSTA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSTA were set to 23534700; 26684698; 25400170; PMID: 21944047
Phenotypes for gene: CSTA were set to 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
Epidermolysis bullosa and congenital skin fragility v0.3 COL7A1 Ellen McDonagh gene: COL7A1 was added
gene: COL7A1 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: COL7A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COL7A1 were set to 11781296; 24599399; 20055845; 19197535; 23616197
Phenotypes for gene: COL7A1 were set to 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
Epidermolysis bullosa and congenital skin fragility v0.3 COL17A1 Ellen McDonagh gene: COL17A1 was added
gene: COL17A1 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: COL17A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COL17A1 were set to 7550320; 9012408; 10577906; 10951237
Phenotypes for gene: COL17A1 were set to Generalised intermediate junctional Epidermolysis bullosa; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Junctional Epidermolysis Bullosa
Epidermolysis bullosa and congenital skin fragility v0.3 CHST8 Ellen McDonagh gene: CHST8 was added
gene: CHST8 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Red
Mode of inheritance for gene: CHST8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHST8 were set to PMID: 22289416
Phenotypes for gene: CHST8 were set to Ichthyosis HP:0008064; Peeling skin HP:0040189; OMIM:#616265; ?Peeling skin syndrome 3, 616265
Epidermolysis bullosa and congenital skin fragility v0.3 CDSN Ellen McDonagh gene: CDSN was added
gene: CDSN was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: CDSN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDSN were set to 21191406; 22146835; 23957618; PMID: 20691404
Phenotypes for gene: CDSN were set to 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
Epidermolysis bullosa and congenital skin fragility v0.3 CD151 Ellen McDonagh gene: CD151 was added
gene: CD151 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Red
Mode of inheritance for gene: CD151 was set to
Phenotypes for gene: CD151 were set to [Blood group, Raph], 179620; Nephropathy with pretibial epidermolysis bullosa and deafness, 609057
Epidermolysis bullosa and congenital skin fragility v0.3 CAST Ellen McDonagh gene: CAST was added
gene: CAST was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green
Mode of inheritance for gene: CAST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAST were set to PMID: 25683118
Phenotypes for gene: CAST were set to 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
Epidermolysis bullosa and congenital skin fragility v0.3 CARD14 Ellen McDonagh gene: CARD14 was added
gene: CARD14 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Red
Mode of inheritance for gene: CARD14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CARD14 were set to Pityriasis rubra pilaris, 173200; PRP; thick scales on the scalp and areas of superficial peeling on the face, palms, soles, and genital region
Epidermolysis bullosa and congenital skin fragility v0.2 Ellen McDonagh Panel types changed to GMS Rare Disease; Component Of Super Panel
Epidermolysis bullosa and congenital skin fragility v0.0 Ellen McDonagh Added Panel Epidermolysis bullosa and congenital skin fragility
Set panel types to: GMS Rare Disease