Activity
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| Ichthyosis and erythrokeratoderma v4.14 | KRT10 | Ida Ertmanska Phenotypes for gene: KRT10 were changed from Epidermolytic hyperkeratosis (EHK), OMIM:113800; ichthyosis with confetti, OMIM:609165; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, OMIM:607602 to Epidermolytic hyperkeratosis 2B, autosomal recessive, OMIM:620707; Epidermolytic hyperkeratosis 2A, autosomal dominant, OMIM:620150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v4.13 | KRT10 | Ida Ertmanska Publications for gene: KRT10 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v4.12 | KRT10 | Ida Ertmanska Tag Q2_26_MOI tag was added to gene: KRT10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v4.12 | KRT10 | Ida Ertmanska commented on gene: KRT10: Comment on mode of inheritance: There are more than 3 unrelated individuals with biallelic KRT10 variants and epidermolytic ichthyosis / hyperkeratosis - heterozygous family members were unaffected. Most individuals presented with generalized erythema, erosions, scaling and easily breaking blisters, with improvement later in life (progression to hyperkeratosis). Based on available evidence, the MOI should be updated from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v4.12 | KRT10 | Ida Ertmanska reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: None; Publications: 16505000, 20302579, 23957016, 29277919, 34273205, 38741524; Phenotypes: Epidermolytic hyperkeratosis 2B, autosomal recessive, OMIM:620707, Epidermolytic hyperkeratosis 2A, autosomal dominant, OMIM:620150; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v1.34 | KRT10 |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Epidermolytic hyperkeratosis (EHK), 113800;erythroderma, prominent scale, and palmoplantar keratoderma;ichthyosis with confetti, 609165;Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 |
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| Ichthyosis and erythrokeratoderma v1.34 | KRT10 | Ivone Leong Phenotypes for gene: KRT10 were changed from Epidermolytic hyperkeratosis (EHK), 113800; erythroderma, prominent scale, and palmoplantar keratoderma; ichthyosis with confetti, 609165; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 to Epidermolytic hyperkeratosis (EHK), OMIM:113800; ichthyosis with confetti, OMIM:609165; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, OMIM:607602 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v0.3 | KRT10 |
Ellen McDonagh gene: KRT10 was added gene: KRT10 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: KRT10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRT10 were set to Epidermolytic hyperkeratosis (EHK), 113800; erythroderma, prominent scale, and palmoplantar keratoderma; ichthyosis with confetti, 609165; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 |
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