Epidermolysis bullosa
Gene: KRT10EnsemblGeneIds (GRCh38): ENSG00000186395
EnsemblGeneIds (GRCh37): ENSG00000186395
OMIM: 148080, Gene2Phenotype
KRT10 is in 7 panels
1 review
Paul De Fazio (Victorian Clinical Genetics Services)
Well-established gene-disease association.
Associated with Epidermolytic Hyperkeratosis (both dominant and recessive inheritance have been reported) and Ichthyosis with confetti. Multiple families (>3) reported for each phenotype and inheritance. I think this gene belongs on the panel for its association with EHK.
EHK can apparently present with skin blistering early in life before thickening, and so this gene is green on the GEL panel.
Sources: LiteratureCreated: 10 Aug 2020, 3:09 a.m. | Last Modified: 10 Aug 2020, 6:13 a.m.
Panel Version: 0.30
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Epidermolytic hyperkeratosis (MIM#113800); Ichthyosis with confetti (MIM#609165); Ichthyosis, cyclic, with epidermolytic hyperkeratosis (MIM#607602)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Epidermolytic hyperkeratosis (MIM#113800)
- Ichthyosis with confetti (MIM#609165)
- Ichthyosis, cyclic, with epidermolytic hyperkeratosis (MIM#607602)
- OMIM
- 148080
- Clinvar variants
- Variants in KRT10
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: krt10 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: krt10 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Paul De Fazio (Victorian Clinical Genetics Services)gene: KRT10 was added gene: KRT10 was added to Epidermolysis bullosa. Sources: Literature Mode of inheritance for gene: KRT10 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: KRT10 were set to 1380725; 1381287; 7508181; 20798280; 16505000; 18219278; 19474805 Phenotypes for gene: KRT10 were set to Epidermolytic hyperkeratosis (MIM#113800); Ichthyosis with confetti (MIM#609165); Ichthyosis, cyclic, with epidermolytic hyperkeratosis (MIM#607602) Review for gene: KRT10 was set to GREEN gene: KRT10 was marked as current diagnostic