PDGFRB

platelet derived growth factor receptor beta
OMIM: 173410, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green PDGFRB in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 2.43 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions Tremors_Superpanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Basal ganglia calcification, idiopathic, 4, MIM# 615007
Green PDGFRB in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.100	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes aneurysm scoliosis atrophic skin stroke infantile myofibromatosis Tags somatic
Green PDGFRB in Brain Calcification Level 2: Neurology and neurodevelopmental disorders Version 1.99 Component of the following Super Panels: Progressive Neurological Conditions	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Basal ganglia calcification, idiopathic, 4, MIM# 615007 MONDO:0014004
Green PDGFRB in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.151	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PDGFRB in Mendeliome Version 1.3512	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Basal ganglia calcification, idiopathic, 4, MIM# 615007 Kosaki overgrowth syndrome, MIM# 616592 Myeloproliferative disorder with eosinophilia, MIM# 131440 Myofibromatosis, infantile, 1, MIM# 228550 Premature ageing syndrome, Penttinen type, MIM# 601812 Ocular pterygium-digital keloid dysplasia syndrome, MIM# 621091
Green PDGFRB in Overgrowth Level 2: Dysmorphic and congenital abnormality syndromes Version 1.16	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Kosaki overgrowth syndrome, MIM# 616592
Green PDGFRB in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.594	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PDGFRB in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Kosaki overgrowth syndrome MIM#616592
Red PDGFRB in Dystonia - complex Level 2: Neurology and neurodevelopmental disorders Version 0.288 Component of the following Super Panels: Dystonia_Superpanel Progressive Neurological Conditions Tremors_Superpanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Basal ganglia calcification, idiopathic, 4, MIM# 615007
Green PDGFRB in Vascular Malformations_Germline Level 2: Cardiovascular disorders Version 1.12 Component of the following Super Panels: Vascular Malformations SuperPanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes aneurysm scoliosis atrophic skin stroke infantile myofibromatosis
Green PDGFRB in Stroke Level 2: Neurology and neurodevelopmental disorders Version 1.28	4 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes aneurysm scoliosis atrophic skin stroke infantile myofibromatosis Tags somatic
Green PDGFRB in Cerebral vascular malformations Level 2: Neurology and neurodevelopmental disorders Version 1.9 Component of the following Super Panels: Progressive Neurological Conditions	4 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes aneurysm scoliosis atrophic skin stroke infantile myofibromatosis Tags somatic
Green PDGFRB in Incidentalome_PREGEN_DRAFT Version 0.43	0 reviews	Unknown	Sources NSW Health Pathology Expert Review Green
Green PDGFRB in Fetal anomalies Version 1.465	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Premature aging syndrome, Penttinen type, MIM# 601812