Ichthyosis and erythrokeratoderma

Gene: LOR

Green List (high evidence)

LOR (loricrin)
EnsemblGeneIds (GRCh38): ENSG00000203782
EnsemblGeneIds (GRCh37): ENSG00000203782
OMIM: 152445, Gene2Phenotype
LOR is in 2 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for LOR is LORICRIN
Created: 18 Dec 2019, 4:41 p.m. | Last Modified: 18 Dec 2019, 4:41 p.m.
Panel Version: 1.0

Catherine Snow (Genomics England)

I don't know

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
new-gene-name
OMIM
152445
Clinvar variants
Variants in LOR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Dec 2019, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: LOR.

12 Dec 2019, Gel status: 3

Set publications

Catherine Snow (Genomics England)

Publications for gene: LOR were set to

12 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

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

2 Sep 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Catherine Snow (Genomics England)

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