| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mosaic skin disorders v0.4 | KRT10 | Zornitza Stark Marked gene: KRT10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders v0.4 | KRT10 | Zornitza Stark Gene: krt10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders v0.4 | KRT10 | Zornitza Stark edited their review of gene: KRT10: Changed phenotypes: Epidermolytic hyperkeratosis MIM#113800, Pachyonychia congenita, Ichythosis with confetti, MIM#609165, Palmoplantar keratoderma | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders v0.4 | KRT10 | Zornitza Stark reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolytic hyperkeratosis, Pachyonychia congenita, Ichythosis with confetti, Palmoplantar keratoderma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders v0.4 | KRT1 | Zornitza Stark Marked gene: KRT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders v0.4 | KRT1 | Zornitza Stark Gene: krt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders v0.4 | KRT1 | Zornitza Stark Tag somatic tag was added to gene: KRT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders v0.4 | KRT1 | Zornitza Stark reviewed gene: KRT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis histrix, Epidermolytic hyperkeratosis, Palmoplantar keratoderma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders v0.1 | KRT10 | Mathew Wallis reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29135017, PMID: 25495838; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders v0.1 | KRT1 | Mathew Wallis reviewed gene: KRT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28532675, PMID: 17255957; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders v0.1 | KRT1 | Mathew Wallis Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders v0.1 | KRT10 | Mathew Wallis reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29135017, PMID: 25495838; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders v0.1 | KRT1 | Mathew Wallis reviewed gene: KRT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28532675, PMID: 17255957; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mosaic skin disorders v0.0 | KRT10 |
Zornitza Stark gene: KRT10 was added gene: KRT10 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp Mode of inheritance for gene: KRT10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT10 were set to 25495838; 29135017 Phenotypes for gene: KRT10 were set to Epidermolytic hyperkeratosis; Pachyonychia congenita; Ichythosis with confetti; Palmoplantar keratoderma |
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| Mosaic skin disorders v0.0 | KRT1 |
Zornitza Stark gene: KRT1 was added gene: KRT1 was added to Mosaic skin disorders. Sources: Expert Review Green,NHS GMS,Genomics England PanelApp Mode of inheritance for gene: KRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT1 were set to 28532675; 17255957 Phenotypes for gene: KRT1 were set to Ichthyosis histrix; Epidermolytic hyperkeratosis; Palmoplantar keratoderma |
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