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| Ichthyosis and erythrokeratoderma v1.37 | KRT17 | Ivone Leong Phenotypes for gene: KRT17 were changed from Steatocystoma multiplex, 184500; Pachyonychia congenita, Jackson-Lawler type, 167210; Pachyonychia Congenita, Type 2 to Steatocystoma multiplex, OMIM:184500; Pachyonychia congenita 2, OMIM:167210 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v1.36 | KRT16 | Ivone Leong Phenotypes for gene: KRT16 were changed from Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200; focal non-epidermolytic palmoplantar keratoderma (NEPPK); striate keratoderma (palmar); Palmoplantar keratoderma, nonepidermolytic, focal, 613000; Pachyonychia Congenita, Type 1; focal keratoderma (palmar); Focal keratoderma; FNEPPK1; Pachyonychia congenita (PC) to Pachyonychia congenita 1, OMIM:167200; Palmoplantar keratoderma, nonepidermolytic, focal, OMIM:613000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v1.35 | KRT14 | Ivone Leong Phenotypes for gene: KRT14 were changed from Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Naegeli-Franceschetti-Jadassohn syndrome, 161000; palmoplantar keratoderma; Dermatopathia pigmentosa reticularis, 125595; Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR) to Epidermolysis bullosa simplex, Dowling-Meara type, OMIM:131760; Naegeli-Franceschetti-Jadassohn syndrome, OMIM:161000; Dermatopathia pigmentosa reticularis, OMIM:125595 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v1.33 | KRT1 |
Ivone Leong Added comment: Comment on phenotypes: Prevous phenotype: Palmoplantar keratoderma, nonepidermolytic, 600962;Palmoplantar keratoderma, epidermolytic, 1;Ichthyosis histrix, Curth-Macklin type, 146590;Epidermolytic hyperkeratosis, 113800;Diffuse palmoplantar keratoderma;Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602;triate keratoderma |
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| Ichthyosis and erythrokeratoderma v1.33 | KRT1 | Ivone Leong Phenotypes for gene: KRT1 were changed from Palmoplantar keratoderma, nonepidermolytic, 600962; Palmoplantar keratoderma, epidermolytic, 1; Ichthyosis histrix, Curth-Macklin type, 146590; Epidermolytic hyperkeratosis, 113800; Diffuse palmoplantar keratoderma; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602; triate keratoderma to Palmoplantar keratoderma, nonepidermolytic, OMIM:600962; Palmoplantar keratoderma, epidermolytic, OMIM:; 600962; Ichthyosis histrix, Curth-Macklin type, OMIM:146590; Epidermolytic hyperkeratosis, OMIM:113800; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, OMIM:607602 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v0.3 | KRT17 |
Ellen McDonagh gene: KRT17 was added gene: KRT17 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: KRT17 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: KRT17 were set to 15102078; 22336949; 9008238; 7539673; 19659471 Phenotypes for gene: KRT17 were set to Steatocystoma multiplex, 184500; Pachyonychia congenita, Jackson-Lawler type, 167210; Pachyonychia Congenita, Type 2 |
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| Ichthyosis and erythrokeratoderma v0.3 | KRT16 |
Ellen McDonagh gene: KRT16 was added gene: KRT16 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: KRT16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT16 were set to 21160496; 8595410; 21790523; 7539673 Phenotypes for gene: KRT16 were set to Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200; focal non-epidermolytic palmoplantar keratoderma (NEPPK); striate keratoderma (palmar); Palmoplantar keratoderma, nonepidermolytic, focal, 613000; Pachyonychia Congenita, Type 1; focal keratoderma (palmar); Focal keratoderma; FNEPPK1; Pachyonychia congenita (PC) |
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| Ichthyosis and erythrokeratoderma v0.3 | KRT14 |
Ellen McDonagh gene: KRT14 was added gene: KRT14 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: KRT14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT14 were set to 9804355 Phenotypes for gene: KRT14 were set to Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Naegeli-Franceschetti-Jadassohn syndrome, 161000; palmoplantar keratoderma; Dermatopathia pigmentosa reticularis, 125595; Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR) |
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| 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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| Ichthyosis and erythrokeratoderma v0.3 | KRT1 |
Ellen McDonagh gene: KRT1 was added gene: KRT1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: KRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT1 were set to 12406346; 11286630; 7528239 Phenotypes for gene: KRT1 were set to Palmoplantar keratoderma, nonepidermolytic, 600962; Palmoplantar keratoderma, epidermolytic, 1; Ichthyosis histrix, Curth-Macklin type, 146590; Epidermolytic hyperkeratosis, 113800; Diffuse palmoplantar keratoderma; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602; triate keratoderma |
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