KDR

kinase insert domain receptor
OMIM: 191306, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red KDR in PHACE(S) syndrome

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.2

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemangioma, capillary infantile, somatic, 602089
  • {Hemangioma, capillary infantile, susceptibility to}, 602089

Red KDR in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.58
Latest signed off version: v2.2 (2 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Red
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemangioma, capillary infantile, somatic, 602089
  • {Hemangioma, capillary infantile, susceptibility to}, 602089
  • {Hemangioma, capillary infantile, susceptibility to}
  • Hemangioma, capillary infantile, somatic
  • Hemangioma, capillary infantile, somatic, 602089

Red KDR in Vascular skin disorders


Version 1.47
Latest signed off version: v1.3 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Susceptibility to infantile haemangioma

Amber KDR in Pulmonary arterial hypertension

Level 3: Pulmonary heart disease
Level 2: Cardiovascular disorders
Version 2.16
Latest signed off version: v2.2 (2 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Heritable pulmonary arterial hypertension, MONDO:0017148
Tags
  • Q2_21_rating