Genomics England
GMS Panels
Panels
Genes and Entities

PDGFRB

platelet derived growth factor receptor beta
OMIM: 173410
PanelMode of inheritanceDetails
8 panels
Green
in Childhood solid tumours
Signed-off version 5.11
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 8.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
PREMATURE AGING SYNDROME, PENTTINEN TYPE 601812, FAMILIAL INFANTILE MYOFIBROMATOSIS 228550
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, 4, OMIM:615007
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 8.0
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:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
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 2.7
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myofibromatosis, infantile, 1, OMIM:228550, myofibromatosis, infantile, 1, MONDO:0009227
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
Dystonia, Basal ganglia calcification, idiopathic, 4, OMIM:615007
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, Calcifications in basal ganglia, Basal ganglia calcification idiopathic 4, 615007