Ichthyosis
Gene: KRT10EnsemblGeneIds (GRCh38): ENSG00000186395
EnsemblGeneIds (GRCh37): ENSG00000186395
OMIM: 148080, Gene2Phenotype
KRT10 is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association.Created: 19 Jan 2021, 8:17 p.m. | Last Modified: 19 Jan 2021, 8:17 p.m.
Panel Version: 0.113
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM# 607602; Ichthyosis with confetti, MIM# 609165
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM# 607602
- Ichthyosis with confetti, MIM# 609165
- OMIM
- 148080
- Clinvar variants
- Variants in KRT10
- Penetrance
- None
- 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).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: KRT10 were changed from to Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM# 607602; Ichthyosis with confetti, MIM# 609165
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: KRT10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: KRT10 was added gene: KRT10 was added to Ichthyosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KRT10 was set to Unknown