| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Epidermolysis bullosa v1.10 | KRT17 | Bryony Thompson Marked gene: KRT17 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.10 | KRT17 | Bryony Thompson Gene: krt17 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.10 | KRT17 | Bryony Thompson Classified gene: KRT17 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.10 | KRT17 | Bryony Thompson Gene: krt17 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.9 | KRT17 | Bryony Thompson Mode of pathogenicity for gene: KRT17 was changed from None to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.8 | KRT16 | Bryony Thompson Marked gene: KRT16 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.8 | KRT16 | Bryony Thompson Gene: krt16 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.8 | KRT16 | Bryony Thompson Classified gene: KRT16 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.8 | KRT16 | Bryony Thompson Gene: krt16 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.5 | KRT17 |
Sangavi Sivagnanasundram gene: KRT17 was added gene: KRT17 was added to Epidermolysis bullosa. Sources: Other Mode of inheritance for gene: KRT17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT17 were set to 11886499; 21326300 Phenotypes for gene: KRT17 were set to Pachyonychia congenita 2 (MIM#167210) Review for gene: KRT17 was set to GREEN Added comment: Also reported as Jackson-Lawler type syndrome PMID: 11886499 4 unrelated individuals with pachyonychia congenita like phenotype PMID: 21326300 Heterozygous pathogenic mutations have a dominant-negative effect on the KRT17 protein Sources: Other |
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| Epidermolysis bullosa v1.5 | KRT16 |
Sangavi Sivagnanasundram gene: KRT16 was added gene: KRT16 was added to Epidermolysis bullosa. Sources: Other Mode of inheritance for gene: KRT16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT16 were set to 16250206 Phenotypes for gene: KRT16 were set to Pachyonychia congenita 1 (MIM#167200) Mode of pathogenicity for gene: KRT16 was set to Other Review for gene: KRT16 was set to GREEN Added comment: PMID: 16250206 Typically identified by nail bed, palmoplantar epidermis (widespread), epidermal appendages, oral mucosa and wound healing. >5 unrelated families with a consistent phenotype of PC and a heterozygous missense variant in KRT16. Sources: Other |
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| Epidermolysis bullosa v0.34 | KRT1 | Zornitza Stark Marked gene: KRT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.34 | KRT1 | Zornitza Stark Gene: krt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.34 | KRT1 | Zornitza Stark Classified gene: KRT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.34 | KRT1 | Zornitza Stark Gene: krt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.30 | KRT10 | Zornitza Stark Marked gene: KRT10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.30 | KRT10 | Zornitza Stark Gene: krt10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.30 | KRT10 | Zornitza Stark Classified gene: KRT10 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.30 | KRT10 | Zornitza Stark Gene: krt10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.24 | KRT1 |
Paul De Fazio gene: KRT1 was added gene: KRT1 was added to Epidermolysis bullosa. Sources: Literature Mode of inheritance for gene: KRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KRT1 were set to 7511022; 21271994 Phenotypes for gene: KRT1 were set to Epidermolytic hyperkeratosis (MIM#113800; Epidermolytic ichthyosis Review for gene: KRT1 was set to GREEN gene: KRT1 was marked as current diagnostic Added comment: Well-established gene-disease association. Associated with Epidermolytic hyperkeratosis, Ichthyosis, and Palmoplantar keratoderma. OMIM says AD and AR associations for EHK but this seems to apply to KRT10, not KRT1. Multiple families reported mostly with EHK (also referred to as epidermolytic ichthyosis in the literature? I'm unsure about the phenotype distinctions). EHK can apparently present with skin blistering early in life before thickening, and so this gene is green on the GEL panel. Sources: Literature |
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| Epidermolysis bullosa v0.24 | KRT10 |
Paul De Fazio gene: KRT10 was added gene: KRT10 was added to Epidermolysis bullosa. Sources: Literature Mode of inheritance for gene: KRT10 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: KRT10 were set to 1380725; 1381287; 7508181; 20798280; 16505000; 18219278; 19474805 Phenotypes for gene: KRT10 were set to Epidermolytic hyperkeratosis (MIM#113800); Ichthyosis with confetti (MIM#609165); Ichthyosis, cyclic, with epidermolytic hyperkeratosis (MIM#607602) Review for gene: KRT10 was set to GREEN gene: KRT10 was marked as current diagnostic Added comment: Well-established gene-disease association. Associated with Epidermolytic Hyperkeratosis (both dominant and recessive inheritance have been reported) and Ichthyosis with confetti. Multiple families (>3) reported for each phenotype and inheritance. I think this gene belongs on the panel for its association with EHK. Sources: Literature |
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| Epidermolysis bullosa v0.23 | KRT14 | Zornitza Stark Marked gene: KRT14 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.23 | KRT14 | Zornitza Stark Gene: krt14 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.23 | KRT14 | Zornitza Stark Phenotypes for gene: KRT14 were changed from to Epidermolysis bullosa simplex, recessive 1, 601001; Dermatopathia pigmentosa reticularis, 125595; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis bullosa simplex, Koebner type, 131900; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Naegeli-Franceschetti-Jadassohn syndrome, 161000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.22 | KRT14 | Zornitza Stark Publications for gene: KRT14 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.21 | KRT14 | Zornitza Stark Mode of pathogenicity for gene: KRT14 was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.20 | KRT14 | Zornitza Stark Mode of inheritance for gene: KRT14 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.19 | KRT14 | Kristin Rigbye reviewed gene: KRT14: Rating: GREEN; Mode of pathogenicity: Other; Publications: 16960809, 18049449; Phenotypes: Epidermolysis bullosa simplex, recessive 1, 601001, Dermatopathia pigmentosa reticularis, 125595, Epidermolysis bullosa simplex, Dowling-Meara type, 131760, Epidermolysis bullosa simplex, Koebner type, 131900, Epidermolysis bullosa simplex, Weber-Cockayne type, 131800, Naegeli-Franceschetti-Jadassohn syndrome, 161000; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.0 | KRT14 |
Zornitza Stark gene: KRT14 was added gene: KRT14 was added to Epidermolysis bullosa_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KRT14 was set to Unknown |
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