Genomics England

LRP5

LDL receptor related protein 5

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes VITREORETINOPATHY EXUDATIVE TYPE 4 601813, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME 259770, HIGH BONE MASS TRAIT 601884, OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1 607634, ENDOSTEAL HYPEROSTOSIS WORTH TYPE 144750
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes VITREORETINOPATHY EXUDATIVE TYPE 4, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, ENDOSTEAL HYPEROSTOSIS WORTH TYPE, OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1, HIGH BONE MASS TRAIT
Green in Osteogenesis imperfecta R-numbers: R102 Signed-off version 4.0	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Osteogenesis Imperfecta and Decreased Bone Density, skeletal dysplasias
Green in Osteopetrosis R-numbers: R104.4 Signed-off version 1.1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Osteopetrosis, autosomal dominant 1 607634, Osteosclerosis 144750, Hyperostosis, endosteal 144750, [Bone mineral density variability 1] 601884, van Buchem disease, type 2 607636
Green in Polycystic liver disease R-numbers: R173 Signed-off version 1.26	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Polycystic liver disease 4 with or without kidney cysts, OMIM:617875
Green in Retinal disorders R-numbers: R32 Signed-off version 6.16	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Eye Disorders, Exudative vitreoretinopathy 4
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 6.16	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Exudative vitreoretinopathy 4 601813, [Bone mineral density variability 1] 601884, Osteopetrosis, autosomal dominant 1 607634, Osteosclerosis 144750, van Buchem disease, type 2 607636, Osteoporosis-pseudoglioma syndrome 259770, Hyperostosis, endosteal 144750, {Osteoporosis} 166710
Green in Structural eye disease R-numbers: R36 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Osteopetrosis, autosomal dominant 1, 607634, Osteoporosis-pseudoglioma syndrome, 259770, van Buchem disease, type 2, Exudative vitreoretinopathy 4, 601813, Eye Disorders