Genomics England

PDGFRB

platelet derived growth factor receptor beta

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Adult onset dystonia, chorea or related movement disorder R-numbers: R56 Signed-off version 3.19	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Basal ganglia calcification, idiopathic, 4, OMIM:615007
Green in Adult onset neurodegenerative disorder R-numbers: R58 Signed-off version 5.4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Dystonia, Basal ganglia calcification, idiopathic, 4, OMIM:615007
Green in Childhood solid tumours R-numbers: R359 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Infantile myofibromatosis, Myofibromatosis, infantile, 1 228550, Myofibromatosis, infantile, 1 228550
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes PREMATURE AGING SYNDROME, PENTTINEN TYPE 601812, FAMILIAL INFANTILE MYOFIBROMATOSIS 228550
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes PREMATURE AGING SYNDROME, PENTTINEN TYPE, FAMILIAL INFANTILE MYOFIBROMATOSIS
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Kosaki overgrowth syndrome, 616592, Intellectual disability
Green in Multiple monogenic benign skin tumours R-numbers: R230 Signed-off version 2.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Myofibromatosis, infantile, 1, OMIM:228550, myofibromatosis, infantile, 1, MONDO:0009227
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Fahr syndrome, Calcifications in basal ganglia, Basal ganglia calcification idiopathic 4, 615007