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Mendeliome

Gene: LOR

Green List (high evidence)

LOR (loricrin)
EnsemblGeneIds (GRCh38): ENSG00000203782
EnsemblGeneIds (GRCh37): ENSG00000203782
OMIM: 152445, Gene2Phenotype
LOR is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Variant Vohwinkel syndrome is a rare genodermatosis characterized by hyperkeratosis of the palms and soles, with a honeycomb appearance; constricting bands encircling the digits of the hands and feet, which frequently lead to autoamputation of the fifth digits; starfish-shaped, salmon-colored hyperkeratotic lesions, or knuckle pads, on the dorsal surface of the hands; and ichthyosiform dermatosis. The pathognomonic histologic finding is markedly thickened stratum corneum, hypergranulosis, and particularly, hyperkeratosis with round nuclei retained in the stratum corneum. Unlike classic Vohwinkel syndrome, hearing loss is not a feature. At least 5 unrelated families reported.
Created: 19 Jan 2021, 8:24 p.m. | Last Modified: 19 Jan 2021, 8:24 p.m.
Panel Version: 0.6091

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Vohwinkel syndrome with ichthyosis, MIM# 604117

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Vohwinkel syndrome with ichthyosis, MIM# 604117
OMIM
152445
Clinvar variants
Variants in LOR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

19 Jan 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LOR were changed from to Vohwinkel syndrome with ichthyosis, MIM# 604117

19 Jan 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LOR were set to

19 Jan 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LOR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LOR was added gene: LOR was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LOR was set to Unknown