| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Epidermolysis bullosa v0.30 | KRT10 |
Paul De Fazio changed review comment from: 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; to: 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. 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 v0.30 | 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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