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  3. LRP5
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Short QT syndrome

Gene: LRP5

Red List (low evidence)
LRP5 (LDL receptor related protein 5)
EnsemblGeneIds (GRCh38): ENSG00000162337
EnsemblGeneIds (GRCh37): ENSG00000162337
OMIM: 603506, Gene2Phenotype
LRP5 is in 14 panels

1 review

Jules Hancox (University of Bristol)

Red List (low evidence)

The evidence here comes from animal model of LRP5 knockout, which results in a short QT interval via modulation of calcium channel degradation. So, in principle, this shows a novel modulator of repolarization that could be implicated in SQTS. Yet to be seen patients.
Sources: Literature
Created: 15 Nov 2018, 5:40 p.m.

Mode of inheritance
Unknown

Phenotypes
short qt

Publications

Mode of pathogenicity
Other

Created: 15 Nov 2018, 5:40 p.m.

Panel version: 0.9

History Filter Activity

20 Nov 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Jules Hancox: The evidence here comes from a

19 Nov 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: LRP5 were set to PMID: 30309679

19 Nov 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: lrp5 has been classified as Red List (Low Evidence).

15 Nov 2018, Gel status: 0

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

Jules Hancox (University of Bristol)

gene: LRP5 was added gene: LRP5 was added to Short QT syndrome. Sources: Literature Mode of inheritance for gene: LRP5 was set to Unknown Publications for gene: LRP5 were set to PMID: 30309679 Phenotypes for gene: LRP5 were set to short qt Mode of pathogenicity for gene: LRP5 was set to Other Review for gene: LRP5 was set to RED