Genomics England
GMS Panels
Panels
Genes and Entities

PDGFB

platelet derived growth factor subunit B
OMIM: 190040
PanelMode of inheritanceDetails
4 panels
Green
in Dystonia, chorea or related movement disorder, adult onset
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 6.7
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Basal ganglia calcification, idiopathic, 5, OMIM:615483
Green
in Dystonia, chorea or related movement disorder, childhood onset
R-numbers: R57
Signed-off version 8.13
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Basal ganglia calcification, idiopathic, 5, OMIM:615483, basal ganglia calcification, idiopathic, 5, MONDO:0014204
Green
in Neurodegenerative disorders, adult onset
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 9.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Basal ganglia calcification, idiopathic, 5, OMIM:615483
Green
in White matter disorders and cerebral calcification - childhood onset
Component of the following Super Panels:
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 8.6
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Fahr syndrome, Basal ganglia calcification, idiopathic, 5, 615483