Epidermolysis bullosa
Gene: KRT17EnsemblGeneIds (GRCh38): ENSG00000128422
EnsemblGeneIds (GRCh37): ENSG00000128422
OMIM: 148069, Gene2Phenotype
KRT17 is in 6 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Also reported as Jackson-Lawler type syndrome
PMID: 11886499
4 unrelated individuals with pachyonychia congenita like phenotype
PMID: 21326300
Heterozygous pathogenic mutations have a dominant-negative effect on the KRT17 protein
Sources: OtherCreated: 23 Jun 2023, 7:04 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pachyonychia congenita 2 (MIM#167210)
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Pachyonychia congenita 2 (MIM#167210)
- OMIM
- 148069
- Clinvar variants
- Variants in KRT17
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: krt17 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: krt17 has been classified as Green List (High Evidence).
Set mode of pathogenicity
Bryony Thompson (Royal Melbourne Hospital)Mode of pathogenicity for gene: KRT17 was changed from None to Other
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: KRT17 was added gene: KRT17 was added to Epidermolysis bullosa. Sources: Other Mode of inheritance for gene: KRT17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT17 were set to 11886499; 21326300 Phenotypes for gene: KRT17 were set to Pachyonychia congenita 2 (MIM#167210) Review for gene: KRT17 was set to GREEN