Palmoplantar keratodermas
Gene: KRT10
KRT10 (keratin 10)
EnsemblGeneIds (GRCh38): ENSG00000186395
EnsemblGeneIds (GRCh37): ENSG00000186395
OMIM: 148080, Gene2Phenotype
KRT10 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000186395
EnsemblGeneIds (GRCh37): ENSG00000186395
OMIM: 148080, Gene2Phenotype
KRT10 is in 8 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: KRT10; 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
-
- Pachyonychia congenita
- Palmoplantar keratoderma
- Ichythosis with confetti
- Epidermolytic hyperkeratosis
- OMIM
- 148080
- Clinvar variants
- Variants in KRT10
- 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 KRT10.
28 Jan 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: KRT10 was added gene: KRT10 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: KRT10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRT10 were set to Pachyonychia congenita; Palmoplantar keratoderma; Ichythosis with confetti; Epidermolytic hyperkeratosis