Palmoplantar keratodermas
Gene: KRT1
KRT1 (keratin 1)
EnsemblGeneIds (GRCh38): ENSG00000167768
EnsemblGeneIds (GRCh37): ENSG00000167768
OMIM: 139350, Gene2Phenotype
KRT1 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000167768
EnsemblGeneIds (GRCh37): ENSG00000167768
OMIM: 139350, Gene2Phenotype
KRT1 is in 7 panels
1 review
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: KRT1; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 28 Jan 2019, 10:47 a.m.
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Ichthyosis histrix
- Palmoplantar keratoderma
- Epidermolytic hyperkeratosis
- OMIM
- 139350
- Clinvar variants
- Variants in KRT1
- Penetrance
- None
- Panels with this gene
History Filter Activity
18 Feb 2019, Gel status: 4
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to KRT1.
28 Jan 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: KRT1 was added gene: KRT1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: KRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRT1 were set to Ichthyosis histrix; Palmoplantar keratoderma; Epidermolytic hyperkeratosis