Genomics England
GMS Panels
Panels
Genes and Entities

CSF1R

colony stimulating factor 1 receptor
OMIM: 164770
PanelMode of inheritanceDetails
6 panels
Green
in Adult onset dystonia, chorea or related movement disorder
R-numbers: R56
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820
Green
in Adult onset leukodystrophy
R-numbers: R62
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820
Green
in Adult onset neurodegenerative disorder
R-numbers: R58
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy, Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS 618476
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Brain abnormalities, neurodegeneration, and dysosteosclerosis, OMIM:618476, BANDDOS
Green
in White matter disorders and cerebral calcification - narrow panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820, Brain abnormalities, neurodegeneration, and dysosteosclerosis, OMIM:618476