1. Panels
  2. Renal Macrocystic Disease
  3. LRP5
STRs in panel
Prev Next
Regions in panel
Prev Next

Renal Macrocystic Disease

Gene: LRP5

Red List (low evidence)
LRP5 (LDL receptor related protein 5)
EnsemblGeneIds (GRCh38): ENSG00000162337
EnsemblGeneIds (GRCh37): ENSG00000162337
OMIM: 603506, Gene2Phenotype
LRP5 is in 17 panels

2 reviews

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

CLINGEN assessed as DEFINITIVE (2020)
Created: 25 Nov 2022, 4:47 a.m. | Last Modified: 25 Nov 2022, 4:47 a.m.
Panel Version: 0.60
Created: 25 Nov 2022, 4:47 a.m.
Last Modified: 25 Nov 2022, 4:47 a.m.
Panel version: 0.60

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

ClinGen assessment is LIMITED (2020).
Created: 28 Nov 2022, 12:14 a.m. | Last Modified: 28 Nov 2022, 12:14 a.m.
Panel Version: 0.63
5 families reported. However, some non-penetrance reported in family members in original family. In two of the families reported subsequently, PKD1 LP variants were found and LRP5 variant was postulated to be a modifier. Note that one of the variants p.Arg1036Gln is present in 692 individuals in gnomad, p.Trp560Cys is present in 9, and p.Arg1135Cys is present in 70. Overall limited evidence for association with cystic renal phenotype. Note the gene has a well-established association with eye/bone phenotypes.
Sources: Expert list
Created: 24 Jun 2020, 9:28 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Polycystic liver disease 4 with or without kidney cysts, MIM# 617875

Publications

Created: 24 Jun 2020, 9:28 p.m.

Panel version: 0.63

History Filter Activity

24 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Jun 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LRP5 was added gene: LRP5 was added to Renal Macrocystic Disease. Sources: Expert list Mode of inheritance for gene: LRP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LRP5 were set to 25920554; 24706814 Phenotypes for gene: LRP5 were set to Polycystic liver disease 4 with or without kidney cysts, MIM# 617875 Review for gene: LRP5 was set to RED