Palmoplantar Keratoderma and Erythrokeratoderma
Gene: LOREnsemblGeneIds (GRCh38): ENSG00000203782
EnsemblGeneIds (GRCh37): ENSG00000203782
OMIM: 152445, Gene2Phenotype
LOR is in 3 panels
1 review
Paul De Fazio (Victorian Clinical Genetics Services)
Multiple families reported (14, as of PMID:25234742). Honeycomb palmoplantar keratoderma (PPK) and generalized, mild ichthyosis are characteristic.
From OMIM: Variant Vohwinkel syndrome is a rare genodermatosis characterized by hyperkeratosis of the palms and soles, with a honeycomb appearance.
Sources: LiteratureCreated: 19 Aug 2020, 9:08 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Vohwinkel syndrome with ichthyosis MIM#604117
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- Vohwinkel syndrome with ichthyosis MIM#604117
- Tags
- OMIM
- 152445
- Clinvar variants
- Variants in LOR
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Bryony Thompson (Royal Melbourne Hospital)Tag new gene name tag was added to gene: LOR.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lor has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lor has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Paul De Fazio (Victorian Clinical Genetics Services)gene: LOR was added gene: LOR was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: LOR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LOR were set to 11703298; 9326323; 8673107; 9326398; 25234742 Phenotypes for gene: LOR were set to Vohwinkel syndrome with ichthyosis MIM#604117 Review for gene: LOR was set to GREEN gene: LOR was marked as current diagnostic