LRP6

LDL receptor related protein 6
OMIM: 603507, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green LRP6 in Mendeliome


Version 1.2789

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Tooth agenesis, selective, 7, MIM# 616724
  • Exudative vitreoretinopathy 8, MIM# 621268

Green LRP6 in Oligodontia


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.30

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Red LRP6 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.310

review Not set
Sources
  • Expert

Green LRP6 in Ectodermal Dysplasia


Level 2: Dermatological disorders
Version 0.95

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Tooth agenesis, selective, 7

Amber LRP6 in Vitreoretinopathy


Level 2: Ophthalmological disorders
Version 1.7

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Exudative vitreoretinopathy 8, MIM# 621268

    Amber LRP6 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.265

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • cleft lip
    • cleft palate
    • tooth agenesis
    • oligodontia

    Amber LRP6 in Fetal anomalies


    Version 1.378

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Tooth agenesis, selective, 7 - MIM#616724
    • cleft lip/palate