LRP6

LDL receptor related protein 6
OMIM: 603507, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green LRP6 in Mendeliome


Version 1.1891

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

Green LRP6 in Oligodontia


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.29

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

Red LRP6 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review Not set
Sources
  • Expert

Green LRP6 in Ectodermal Dysplasia


Level 2: Dermatological disorders
Version 0.86

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

Amber LRP6 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.252

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 1.255

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