KDR

kinase insert domain receptor
OMIM: 191306, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green KDR in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.430

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Literature
Phenotypes
  • Tetralogy of Fallot, MONDO:0008542

Green KDR in Mendeliome


Version 1.2374

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pulmonary hypertension
  • Haemangioma, capillary infantile, somatic 602089
  • Tetralogy of Fallot, MONDO:0008542

Amber KDR in Vascular Malformations_Germline


Level 2: Cardiovascular disorders
Version 1.12

Component of the following Super Panels:

  • Vascular Malformations SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • {Hemangioma, capillary infantile, susceptibility to} 602089
    • Hemangioma, capillary infantile, somatic 602089
    • Cystic hygroma
    Tags
    • somatic

    Green KDR in Pulmonary Arterial Hypertension


    Level 2: Cardiovascular disorders
    Version 1.39

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Pulmonary hypertension

    Red KDR in Vascular Malformations_Somatic


    Level 2: Cardiovascular disorders
    Version 1.14

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel
  • review Other
    Sources
    • Expert list
    Phenotypes
    • Hemangioma, capillary infantile, somatic, MIM# 602089

    Green KDR in Fetal anomalies


    Version 1.314

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Tetralogy of Fallot