Renal Macrocystic Disease
Gene: LRP5
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
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 listCreated: 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
Gene: lrp5 has been classified as Red List (Low Evidence).
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