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  2. Palmoplantar keratodermas
  3. LOR
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Palmoplantar keratodermas

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, 4:42 p.m. | Last Modified: 18 Dec 2019, 4:42 p.m.
Panel Version: 1.0
Created: 18 Dec 2019, 4:42 p.m.
Last Modified: 18 Dec 2019, 4:42 p.m.
Panel version: 1.0

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

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

Created: 28 Jan 2019, 10:47 a.m.

Panel version: 0.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Loricrin keratoderma
Tags
new-gene-name
OMIM
152445
Clinvar variants
Variants in LOR
Penetrance
None
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.

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to LOR.

28 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

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