Ichthyosis and erythrokeratoderma
Gene: LORAdded new-gene-name tag, new approved HGNC gene symbol for LOR is LORICRINCreated: 18 Dec 2019, 4:41 p.m. | Last Modified: 18 Dec 2019, 4:41 p.m.
Panel Version: 1.0
Comment on list classification: Sufficient number of variants identified in the literature to classify as Green.Created: 12 Dec 2019, 2:53 p.m. | Last Modified: 12 Dec 2019, 2:53 p.m.
Panel Version: 0.13
This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.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: 9 Sep 2019, 3:38 p.m. | Last Modified: 9 Sep 2019, 3:38 p.m.
Panel Version: 0.10
Phenotypes for gene: LOR were changed from to Vohwinkel syndrome with ichthyosis, OMIM:604117
Tag new-gene-name tag was added to gene: LOR.
Publications for gene: LOR were set to
Gene: lor has been classified as Green List (High Evidence).
gene: LOR was added gene: LOR was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber Mode of inheritance for gene: LOR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown