Ichthyosis and erythrokeratoderma
Gene: KRT1Comment 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 keratodermaCreated: 23 Mar 2021, 3:13 p.m. | Last Modified: 23 Mar 2021, 3:13 p.m.
Panel Version: 1.33
Comment when marking as ready: Discussed with Helen Brittain, who agrees with Green rating: Several (>3) unrelated cases in OMIM with appropriate phenotype for inclusion.Created: 3 Apr 2017, 9:17 a.m.
>3 KRT1 variants in >3 unrelated individuals reported in OMIM for 'epidermolytic palmoplantar keratoderma (OMIM:144200), Palmoplantar keratoderma, nonepidermolytic (OMIM:600962) and Keratosis palmoplantaris striata III (OMIM:607654) (amongst other disorders). Some of these mutations affect splicing: For example, in 3 Scottish kindreds with a mild form of OMIM:144200, Hatsell et al. (2001, PMID:11286630) identified a 4134G-A transition in the splice donor site of exon 6 of the KRT1 gene. The nucleotide substitution led to the utilization of a novel in-frame splice site 54 bases downstream of the mutation with the subsequent insertion of 18 amino acids into the 2B rod domain.Created: 23 Mar 2017, 10:20 a.m.
Comment on list classification: Updated rating from Red to Green: >3 relevant variants recorded in OMIM, and KRT1 is listed in the Prior Genetic testing set in the Eligibility statement.Created: 9 Jan 2017, 12:24 p.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.Created: 9 Jan 2017, 12:13 p.m.
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
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