Palmoplantar keratodermas
Gene: KRT6C
KRT6C (keratin 6C)
EnsemblGeneIds (GRCh38): ENSG00000170465
EnsemblGeneIds (GRCh37): ENSG00000170465
OMIM: 612315, Gene2Phenotype
KRT6C is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000170465
EnsemblGeneIds (GRCh37): ENSG00000170465
OMIM: 612315, Gene2Phenotype
KRT6C is in 3 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: KRT6C; 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
-
- Palmoplantar keratoderma
- OMIM
- 612315
- Clinvar variants
- Variants in KRT6C
- 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 KRT6C.
28 Jan 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: KRT6C was added gene: KRT6C was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: KRT6C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRT6C were set to Palmoplantar keratoderma