Retinal disorders

Gene: LRP5

Green List (high evidence)

Green List (high evidence)

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

Phenotypes
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.