Ichthyosis
Gene: KRT1EnsemblGeneIds (GRCh38): ENSG00000167768
EnsemblGeneIds (GRCh37): ENSG00000167768
OMIM: 139350, Gene2Phenotype
KRT1 is in 5 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association, variants in this gene are linked to multiple dermatological phenotypes.Created: 19 Jan 2021, 8:14 p.m. | Last Modified: 19 Jan 2021, 8:14 p.m.
Panel Version: 0.111
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM# 607602; Ichthyosis histrix, Curth-Macklin type, MIM# 146590
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 histrix, Curth-Macklin type, MIM# 146590
- OMIM
- 139350
- Clinvar variants
- Variants in KRT1
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: krt1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: KRT1 were changed from to Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM# 607602; Ichthyosis histrix, Curth-Macklin type, MIM# 146590
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: KRT1 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: KRT1 was added gene: KRT1 was added to Ichthyosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KRT1 was set to Unknown