LRP5

LDL receptor related protein 5
OMIM: 603506, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Red LRP5 in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.47	review	Not set	Sources Expert Review Green NHS GMS Emory Genetics Laboratory Phenotypes Eye Disorders
Red LRP5 in Bilateral congenital or childhood onset cataracts Level 2: Ophthalmology Version 7.6 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red UKGTN Phenotypes Osteoporosis-pseudoglioma syndrome Exudative vitreoretinopathy 4
Green LRP5 in Ductal plate malformation Version 1.31	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Phenotypes Polycystic liver disease 4 with or without kidney cysts (617875)
Green LRP5 in Polycystic liver disease Level 2: Gastrohepatology Version 1.32 Latest signed off version: v1.26 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS NHS GMS Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Phenotypes Polycystic liver disease 4 with or without kidney cysts, OMIM:617875
Red LRP5 in Short QT syndrome Level 2: Cardiology Version 3.16 Latest signed off version: v3.14 (30 Apr 2025) Component of the following Super Panels: Cardiac arrhythmias Sudden unexplained death or survivors of a cardiac event Unexplained death in infancy and sudden unexplained death in childhood	review	Unknown	Sources Expert Review Red Literature Phenotypes short qt
Green LRP5 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.33 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Emory Genetics Laboratory Expert 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 LRP5 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.138 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes VITREORETINOPATHY EXUDATIVE TYPE 4 OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME ENDOSTEAL HYPEROSTOSIS WORTH TYPE OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1 HIGH BONE MASS TRAIT
Red LRP5 in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 2: Musculoskeletal Version 6.3 Latest signed off version: v6.0 (30 Apr 2025)	review	Not set	Sources NHS GMS Expert Review Red Expert list
Green LRP5 in Osteogenesis imperfecta Level 2: Musculoskeletal Version 5.4 Latest signed off version: v5.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Emory Genetics Laboratory Expert Phenotypes Osteogenesis Imperfecta and Decreased Bone Density skeletal dysplasias
Green LRP5 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green 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
Amber LRP5 in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Osteoporosis-pseudoglioma syndrome, 259770
Green LRP5 in Retinal disorders Level 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Eye Disorders Exudative vitreoretinopathy 4
Green LRP5 in Structural eye disease Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Osteopetrosis, autosomal dominant 1, 607634 Osteoporosis-pseudoglioma syndrome, 259770 van Buchem disease, type 2 Exudative vitreoretinopathy 4, 601813 Eye Disorders
Green LRP5 in Osteopetrosis Level 2: Musculoskeletal Version 1.38 Latest signed off version: v1.1 (21 Sep 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Phenotypes Osteopetrosis, autosomal dominant 1 OMIM:607634 Osteosclerosis OMIM:144750 Hyperostosis, endosteal OMIM:144750 [Bone mineral density variability 1] OMIM:601884 van Buchem disease, type 2 OMIM:607636