| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mosaic skin disorders - deep sequencing v0.16 | KRT10 | Tom Cullup reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: ; Publications: 29135017, 25495838; Phenotypes: Epidermolytic hyperkeratosis, Palmoplantar keratoderma, Pachyonychia congenita, Ichythosis with confetti; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v0.16 | KRT1 | Tom Cullup reviewed gene: KRT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28532675, 17255957; Phenotypes: Epidermolytic hyperkeratosis, Ichthyosis histrix, Palmoplantar keratoderma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v0.15 | KRT10 | Catherine Snow Publications for gene KRT10 were changed from to 29135017; 25495838 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v0.15 | KRT1 | Catherine Snow Publications for gene KRT1 were changed from to 28532675; 17255957 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v0.7 | KRT10 | Rebecca Foulger Source London North GLH was added to KRT10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v0.7 | KRT1 | Rebecca Foulger Source London North GLH was added to KRT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v0.4 | KRT10 | Rebecca Foulger reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v0.4 | KRT1 | Rebecca Foulger reviewed gene: KRT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders - deep sequencing v0.3 | KRT10 |
Rebecca Foulger gene: KRT10 was added gene: KRT10 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: KRT10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRT10 were set to Epidermolytic hyperkeratosis; Palmoplantar keratoderma; Ichythosis with confetti; Pachyonychia congenita |
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| Mosaic skin disorders - deep sequencing v0.3 | KRT1 |
Rebecca Foulger gene: KRT1 was added gene: KRT1 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: KRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRT1 were set to Epidermolytic hyperkeratosis; Palmoplantar keratoderma; Ichthyosis histrix |
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