Retinal disordersGene: LRP5
Mutation mechanism (not loss of function) is Loss of function/Activating/Uncertain
Created: 17 Jan 2017, 4:30 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Osteoporosis-pseudoglioma syndrome (OPPG) (BIALLELIC, autosomal or pseudoautosomal); Vitreoretinopathy exudative type 4 (EVR4) (BOTH monoallelic and biallelic, autosomal or pseudoautosomal); High bone mass trait (HBM) (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown); Endosteal hyperostosis Worth type (WENHY) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Osteopetrosis autosomal dominant type 1 (OPTA1) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.
Created: 2 Jun 2016, 8:04 a.m.
Comment on mode of inheritance: Source: OMIM.
Created: 22 Mar 2016, 1:17 p.m.
Source NHS GMS was added to LRP5. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Phenotypes for LRP5 were set to Eye Disorders; Exudative vitreoretinopathy 4
Mode of inheritance for LRP5 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
LRP5 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
LRP5 was created by ellenmcdonagh