Palmoplantar Keratoderma and Erythrokeratoderma

Gene: KLF4

Green List (high evidence)

KLF4 (Kruppel like factor 4)
EnsemblGeneIds (GRCh38): ENSG00000136826
EnsemblGeneIds (GRCh37): ENSG00000136826
OMIM: 602253, Gene2Phenotype
KLF4 is in 2 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

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: Literature
Created: 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

5 May 2022, Gel status: 3

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

5 May 2022, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: klf4 has been classified as Green List (High Evidence).

5 May 2022, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: klf4 has been classified as Green List (High Evidence).

5 May 2022, Gel status: 1

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: klf4 has been classified as Red List (Low Evidence).

5 May 2022, Gel status: 1

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