Epidermolysis bullosa
Gene: KRT6AEnsemblGeneIds (GRCh38): ENSG00000205420
EnsemblGeneIds (GRCh37): ENSG00000205420
OMIM: 148041, Gene2Phenotype
KRT6A is in 5 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Well established gene-disease association.
Multiple families reported with hyperkeratotic disorders with skin fragility like symptoms.
p.Asn172del is the most common mutation identified in families with Pachyonychia congenita
Sources: OtherCreated: 23 Jun 2023, 5:39 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pachyonychia congenita 3 MIM#615726
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Pachyonychia congenita 3 MIM#615726
- OMIM
- 148041
- Clinvar variants
- Variants in KRT6A
- 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: krt6a has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: krt6a has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Sangavi Sivagnanasundram (Melbourne Health)gene: KRT6A was added gene: KRT6A was added to Epidermolysis bullosa. Sources: Other Mode of inheritance for gene: KRT6A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT6A were set to 32017015; 21326300 Phenotypes for gene: KRT6A were set to Pachyonychia congenita 3 MIM#615726 Mode of pathogenicity for gene: KRT6A was set to Other Review for gene: KRT6A was set to GREEN