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Cataracts

Gene: LRP5

Red List (low evidence)

LRP5 (LDL receptor related protein 5)
EnsemblGeneIds (GRCh38): ENSG00000162337
EnsemblGeneIds (GRCh37): ENSG00000162337
OMIM: 603506, Gene2Phenotype
LRP5 is in 15 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Red List (low evidence)

Associated with Exudative vitreoretinopathy 4
Created: 14 Jun 2016, 8:27 a.m.

Phenotypes
Exudative vitreoretinopathy 4

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Demoted to red due to expert review.
Created: 14 Jun 2016, 12:39 p.m.
Is on the Manchester congenital cataracts gene panel. Is a confirmed DD gene for Osteoporosis-pseudoglioma syndrome (includes cataract as a phenotype). Biallelic for this disease (monoallelic for others).
Created: 29 Apr 2016, 12:19 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

History Filter Activity

14 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

14 Jun 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for LRP5 were set to Osteoporosis-pseudoglioma syndrome;Exudative vitreoretinopathy 4

14 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

31 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for LRP5 were set to Osteoporosis-pseudoglioma syndrome

31 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for LRP5 was changed to BIALLELIC, autosomal or pseudoautosomal

13 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

LRP5 was added to Cataractspanel. Sources: UKGTN