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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. |
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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) |
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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) |
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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) |
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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. |
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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 |
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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 |
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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 |
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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 |
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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 |
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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) |
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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) |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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. |
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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 |
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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. |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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) |
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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) |
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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 |
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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) |
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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) |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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) |
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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) |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |