Palmoplantar keratodermasGene: LOR
Added new-gene-name tag, new approved HGNC gene symbol for LOR is LORICRIN
Created: 18 Dec 2019, 4:42 p.m. | Last Modified: 18 Dec 2019, 4:42 p.m.
Panel Version: 1.0
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: LOR; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 28 Jan 2019, 10:47 a.m.
Variants in this GENE are reported as part of current diagnostic practice
Tag new-gene-name tag was added to gene: LOR.
Source London North GLH was added to LOR.
gene: LOR was added gene: LOR was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: LOR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LOR were set to Loricrin keratoderma