PDGFRB

platelet derived growth factor receptor beta
OMIM: 173410, Gene2Phenotype

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
No list PDGFRB in Parkinson Disease and Complex Parkinsonism Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.121	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Phenotypes Basal ganglia calcification, idiopathic, 4, MIM# 615007
Red PDGFRB in Early onset dystonia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.147	review	Not set	Sources Emory Genetics Laboratory Phenotypes Dystonia
Green PDGFRB in White matter disorders and cerebral calcification - narrow panel Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Fahr syndrome Calcifications in basal ganglia Basal ganglia calcification idiopathic 4, 615007
Green PDGFRB in Childhood solid tumours Level 3: Childhood Tumours Level 2: Tumour syndromes Version 4.18 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Expert list Phenotypes Infantile myofibromatosis Myofibromatosis, infantile, 1 228550 Myofibromatosis, infantile, 1 228550
Red PDGFRB in Corneal abnormalities Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.13	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature
Red PDGFRB in Corneal dystrophy Version 3.10 Latest signed off version: v3.2 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature
Green PDGFRB in Structural basal ganglia disorders Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.39	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Basal ganglia calcification, idiopathic, 4 615007
Green PDGFRB in Intracerebral calcification disorders Level 3: Parenchymal brain disorders Level 2: Neurology and neurodevelopmental disorders Version 1.35	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Expert list Phenotypes Basal ganglia calcification idiopathic 4, 615007 Calcifications in basal ganglia Fahr syndrome
Green PDGFRB in Multiple monogenic benign skin tumours Version 2.4 Latest signed off version: v2.0 (30 Nov 2022)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Myofibromatosis, infantile, 1, OMIM:228550 myofibromatosis, infantile, 1, MONDO:0009227
No list PDGFRB in Cerebellar hypoplasia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.73	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Cerebellar hypoplasia
Green PDGFRB in Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Level 3: Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Level 2: Growth disorders Version 1.120	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Kosaki overgrowth syndrome, OMIM:616592
Green PDGFRB in Adult onset neurodegenerative disorder Version 5.3 Latest signed off version: v5.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Dystonia Basal ganglia calcification, idiopathic, 4, OMIM:615007
Green PDGFRB in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes PREMATURE AGING SYNDROME, PENTTINEN TYPE FAMILIAL INFANTILE MYOFIBROMATOSIS
Green PDGFRB in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PREMATURE AGING SYNDROME, PENTTINEN TYPE 601812 FAMILIAL INFANTILE MYOFIBROMATOSIS 228550
Green PDGFRB in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.13 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Kosaki overgrowth syndrome, 616592 Intellectual disability
Green PDGFRB in Adult onset dystonia, chorea or related movement disorder Version 3.19 Latest signed off version: v3.12 (31 Jul 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS London North GLH Phenotypes Basal ganglia calcification, idiopathic, 4, OMIM:615007
Red PDGFRB in Childhood onset dystonia, chorea or related movement disorder Version 4.3 Latest signed off version: v4.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources PanelApp Expert Review Red London North GLH Phenotypes Dystonia Basal ganglia calcification, idiopathic, 4 615007
Green PDGFRB in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Myofibromatosis, infantile, 1, 228550 Kosaki overgrowth syndrome, 616592 Premature aging syndrome, Penttinen type, 601812 Basal ganglia calcification, idiopathic, 4, 615007 Myeloproliferative disorder with eosinophilia, 131440