LRP5

LDL receptor related protein 5
OMIM: 603506
PanelMode of inheritanceDetails
8 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
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
R-numbers: R21
Signed-off version 1.92
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
R-numbers: R102
Signed-off version 2.2
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
R-numbers: R173
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Polycystic liver disease 4 with or without kidney cysts (617875)
R-numbers: R32, R33, R34, R35
Signed-off version 2.7
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Eye Disorders, Exudative vitreoretinopathy 4
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
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
R-numbers: R36
Signed-off version 1.3
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