Palmoplantar Keratoderma and Erythrokeratoderma
Gene: KLF4EnsemblGeneIds (GRCh38): ENSG00000136826
EnsemblGeneIds (GRCh37): ENSG00000136826
OMIM: 602253, Gene2Phenotype
KLF4 is in 2 panels
1 review
Elena Savva (Victorian Clinical Genetics Services)
PMID: 35168889 - 3 patients from 2 unrelated families with palmoplantar keratoderma. Two variants found, fs and a missense.
Functional studies on patient skin biopsy shows "slightly but significantly decreased" protein expression in both children.
Gene was shown to bind the DSG1 promoter and regulate expression. Transfected cells showed reduced DSG1 expression.
PMID: 10431239 - mouse K/O died shortly after birth due to loss of skin barrier function
gnomAD: single het fs in the population
Sources: LiteratureCreated: 5 May 2022, 2:04 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hereditary palmoplantar keratoderma MONDO:0019272, KFL4-related
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Hereditary palmoplantar keratoderma MONDO:0019272, KFL4-related
- OMIM
- 602253
- Clinvar variants
- Variants in KLF4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: KLF4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: klf4 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: klf4 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: klf4 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)gene: KLF4 was added gene: KLF4 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: KLF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KLF4 were set to PMID: 35168889; 10431239 Phenotypes for gene: KLF4 were set to Hereditary palmoplantar keratoderma MONDO:0019272, KFL4-related Review for gene: KLF4 was set to GREEN