Genomics England
GMS Panels
Panels
Genes and Entities

PDGFB

platelet derived growth factor subunit B
OMIM: 190040
PanelMode of inheritanceDetails
4 panels
Green
in Adult onset dystonia, chorea or related movement disorder
R-numbers: R56
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Basal ganglia calcification, idiopathic, 5, OMIM:615483
Green
in Adult onset neurodegenerative disorder
R-numbers: R58
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Basal ganglia calcification, idiopathic, 5, OMIM:615483
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Basal ganglia calcification, idiopathic, 5, OMIM:615483, basal ganglia calcification, idiopathic, 5, MONDO:0014204
Green
in White matter disorders and cerebral calcification - narrow panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Fahr syndrome, Basal ganglia calcification, idiopathic, 5, 615483