Epidermolysis bullosa
Gene: KRT6BEnsemblGeneIds (GRCh38): ENSG00000185479
EnsemblGeneIds (GRCh37): ENSG00000185479
OMIM: 148042, Gene2Phenotype
KRT6B is in 5 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Previously known as Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2
Mutants are found to have a dominant-negative most of pathogenicity.
PMID: 24611874
Multiple families with either plantar keratoderma or palmopantar keratoderma phenotypes with a mutation in KRT6B
PMID: 21326300
The most common reported mutation K6b p.Glu472Lys in families with KRT6B-related Pachyonychia congenita
Sources: OtherCreated: 23 Jun 2023, 6:15 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pachyonychia congenita 4 MIM#615728
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Pachyonychia congenita 4 MIM#615728
- OMIM
- 148042
- Clinvar variants
- Variants in KRT6B
- 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: krt6b has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: krt6b 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: KRT6B was added gene: KRT6B was added to Epidermolysis bullosa. Sources: Other Mode of inheritance for gene: KRT6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT6B were set to 24611874; 21326300 Phenotypes for gene: KRT6B were set to Pachyonychia congenita 4 MIM#615728 Mode of pathogenicity for gene: KRT6B was set to Other Review for gene: KRT6B was set to GREEN