KDR

kinase insert domain receptor
OMIM: 191306, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green KDR in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.418	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 1.1891	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 1.11 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
Red KDR in CGC_86 Version 0.2	review	Other	Sources CGC_86 Phenotypes NA
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 Cerebral vascular malformations Level 2: Neurology and neurodevelopmental disorders Version 0.39 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Genomics England PanelApp Expert Review Red Phenotypes Hemangioma, capillary infantile, somatic Hemangioma, capillary infantile, somatic, 602089 {Hemangioma, capillary infantile, susceptibility to}, 602089 {Hemangioma, capillary infantile, susceptibility to}
Red KDR in Vascular Malformations_Somatic Level 2: Cardiovascular disorders Version 1.13 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 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Tetralogy of Fallot