LRP5

LDL receptor related protein 5
OMIM: 603506, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Red LRP5 in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.45	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 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 4.12 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red UKGTN Phenotypes Osteoporosis-pseudoglioma syndrome Exudative vitreoretinopathy 4
Green LRP5 in Ductal plate malformation Version 1.29	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 Version 1.31 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 Version 3.10 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Cardiac arrhythmias Sudden unexplained death or survivors of a cardiac event	review	Unknown	Sources Expert Review Red Literature Phenotypes short qt
Green LRP5 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.56 Latest signed off version: v4.0 (22 Mar 2023) 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 Emory Genetics Laboratory Expert Review Green 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 Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	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 3: Craniosynostosis syndromes Level 2: Skeletal disorders Version 4.179 Latest signed off version: v4.0 (22 Mar 2023)	review	Not set	Sources NHS GMS Expert Review Red Expert list
Green LRP5 in Osteogenesis imperfecta Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.5 Latest signed off version: v4.0 (22 Mar 2023)	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 3.87 Latest signed off version: v3.1 (22 Mar 2023) 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 - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) 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 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 4.89 Latest signed off version: v4.0 (22 Mar 2023)	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 Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	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 Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes van Buchem disease, type 2, 607636 Osteosclerosis, 144750 Osteoporosis-pseudoglioma syndrome, 259770 Osteopetrosis, autosomal dominant 1, 607634 Exudative vitreoretinopathy 4, 601813 Polycystic liver disease 4 with or without kidney cysts, 617875 Hyperostosis, endosteal, 144750
Green LRP5 in Osteopetrosis Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.34 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