CSF1R

colony stimulating factor 1 receptor
OMIM: 164770, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green CSF1R in Parkinson Disease and Complex Parkinsonism Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.121	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820 Tags adult-onset
Green CSF1R in Early onset dementia (encompassing fronto-temporal dementia and prion disease) Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN Phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820 Dementia Tags adult-onset
Green CSF1R in White matter disorders and cerebral calcification - narrow panel Version 3.35 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820 Brain abnormalities, neurodegeneration, and dysosteosclerosis, OMIM:618476
Green CSF1R in Adult onset leukodystrophy Version 3.24 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820
Green CSF1R in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.180	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820 Brain abnormalities, neurodegeneration, and dysosteosclerosis, OMIM:618476 Tags adult-onset
Green CSF1R in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820 Tags adult-onset
Green CSF1R in Fetal anomalies Version 3.169 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Brain abnormalities, neurodegeneration, and dysosteosclerosis, OMIM:618476 BANDDOS
Green CSF1R in DDG2P Version 3.90 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS 618476
Red CSF1R in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.550 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 Tags adult-onset
Green CSF1R in Adult onset dystonia, chorea or related movement disorder Version 3.18 Latest signed off version: v3.12 (31 Jul 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London North GLH Expert Review Green Phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820
Green CSF1R in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 Brain abnormalities, neurodegeneration, and dysosteosclerosis, 618476