Epidermolysis bullosa
Gene: KRT16EnsemblGeneIds (GRCh38): ENSG00000186832
EnsemblGeneIds (GRCh37): ENSG00000186832
OMIM: 148067, Gene2Phenotype
KRT16 is in 5 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
PMID: 16250206
Typically identified by nail bed, palmoplantar epidermis (widespread), epidermal appendages, oral mucosa and wound healing.
>5 unrelated families with a consistent phenotype of PC and a heterozygous missense variant in KRT16.
Sources: OtherCreated: 23 Jun 2023, 6:49 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pachyonychia congenita 1 (MIM#167200)
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Pachyonychia congenita 1 (MIM#167200)
- OMIM
- 148067
- Clinvar variants
- Variants in KRT16
- 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: krt16 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: krt16 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: KRT16 was added gene: KRT16 was added to Epidermolysis bullosa. Sources: Other Mode of inheritance for gene: KRT16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT16 were set to 16250206 Phenotypes for gene: KRT16 were set to Pachyonychia congenita 1 (MIM#167200) Mode of pathogenicity for gene: KRT16 was set to Other Review for gene: KRT16 was set to GREEN