LRP5

LDL receptor related protein 5
OMIM: 603506, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Red LRP5 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.39

review Not set
Sources
  • Expert Review Green
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders

Red LRP5 in Cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.84
Latest signed off version: v2.76 (5 Aug 2021)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Osteoporosis-pseudoglioma syndrome
  • Exudative vitreoretinopathy 4

Green LRP5 in Ductal plate malformation


Version 1.18

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 interim


Version 1.23
Latest signed off version: v1.4 (4 Mar 2020)

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 2.7
Latest signed off version: v2.4 (20 Aug 2020)

Component of the following Super Panels:

  • Cardiac arrhythmias
  • Sudden cardiac death
  • review Unknown
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • short qt

    Green LRP5 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.126
    Latest signed off version: v2.2 (13 Feb 2020)

    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 1.717
    Latest signed off version: v1.92 (21 Aug 2020)

    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 Craniosynostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 2.53
    Latest signed off version: v2.2 (13 Feb 2020)

    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 2.37
    Latest signed off version: v2.2 (13 Feb 2020)

    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 2.46
    Latest signed off version: v2.2 (13 Feb 2020)

    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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1306
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 2.209
    Latest signed off version: v2.195 (5 Aug 2021)

    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 1.81
    Latest signed off version: v1.3 (4 Mar 2020)

    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 1.84

    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 1.26
    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