Palmoplantar keratoderma and erythrokeratodermas
Gene: KRT1EnsemblGeneIds (GRCh38): ENSG00000167768
EnsemblGeneIds (GRCh37): ENSG00000167768
OMIM: 139350, Gene2Phenotype
KRT1 is in 7 panels
2 reviews
Helen Brittain (Genomics England Curator)
Rebecca Foulger (Genomics England curator)
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Eligibility statement prior genetic testing
- Phenotypes
-
- Diffuse palmoplantar keratoderma
- triate keratoderma
- Epidermolytic hyperkeratosis, 113800
- Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602
- Ichthyosis histrix, Curth-Macklin type, 146590
- Palmoplantar keratoderma, nonepidermolytic, 600962
- Palmoplantar keratoderma, epidermolytic, 1
- Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602
- Palmoplantar keratoderma, epidermolytic, 1
- OMIM
- 139350
- Clinvar variants
- Variants in KRT1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Rebecca Foulger (Genomics England curator)Promoted to Version 1, April 11th 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for KRT1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
Ellen McDonagh (Genomics England Curator)KRT1 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Source: Radboud University Medical Center, Nijmegen
Created
Ellen McDonagh (Genomics England Curator)KRT1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)KRT1 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Eligibility statement prior genetic testing