PDGFRB

platelet derived growth factor receptor beta
OMIM: 173410
PanelMode of inheritanceDetails
8 panels
R-numbers: R56
Signed-off version 3.12
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Basal ganglia calcification, idiopathic, 4, OMIM:615007
R-numbers: R58
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dystonia, Basal ganglia calcification, idiopathic, 4, OMIM:615007
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 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
PREMATURE AGING SYNDROME, PENTTINEN TYPE 601812, FAMILIAL INFANTILE MYOFIBROMATOSIS 228550
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
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Kosaki overgrowth syndrome, 616592, Intellectual disability
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
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Fahr syndrome, Calcifications in basal ganglia, Basal ganglia calcification idiopathic 4, 615007