CSF1R

colony stimulating factor 1 receptor
OMIM: 164770, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green CSF1R in Early-onset Dementia Level 2: Neurology and neurodevelopmental disorders Version 1.50 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions	1 review	Unknown	Sources Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Expert Review Green
Green CSF1R in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 2.43 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions Tremors_Superpanel	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes leukoencephalopathy, diffuse hereditary, with spheroids 1 MONDO:0800027
Green CSF1R in Mendeliome Version 1.3512	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Brain abnormalities, neurodegeneration, and dysosteosclerosis, (MIM#618476) Leukoencephalopathy, diffuse hereditary, with spheroids, (MIM#221820)
Green CSF1R in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.267 Component of the following Super Panels: Progressive Neurological Conditions	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Brain abnormalities, neurodegeneration, and dysosteosclerosis, (MIM#618476)
Green CSF1R in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.594	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476 BANDDOS
Amber CSF1R in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476 BANDDOS
Green CSF1R in Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.59 Component of the following Super Panels: Ataxia_Superpanel Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids MIM#221820 ataxia
Green CSF1R in Leukodystrophy - adult onset Level 2: Neurology and neurodevelopmental disorders Version 0.151 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, 221820
Red CSF1R in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene Phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids
Green CSF1R in Fetal anomalies Version 1.465	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476 BANDDOS
Red CSF1R in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids