KDR

kinase insert domain receptor
OMIM: 191306, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Red KDR in PHACE(S) syndrome Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.4	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 2: Neurology Version 4.10 Latest signed off version: v4.0 (30 Apr 2025)	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 Level 2: Dermatology Version 2.5 Latest signed off version: v2.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London North GLH NHS GMS Phenotypes Susceptibility to infantile haemangioma
Green KDR in Pulmonary arterial hypertension Level 2: Respiratory Version 4.5 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Heritable pulmonary arterial hypertension, MONDO:0017148
Amber KDR in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Hemangioma, capillary infantile, somatic, OMIM:602089