CSF1R

colony stimulating factor 1 receptor
OMIM: 164770, ClinGen, DECIPHER

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green CSF1R in Early-onset Dementia Level 2: Neurology and neurodevelopmental disorders Version 1.52 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 2.44 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 Brain Calcification Level 2: Neurology and neurodevelopmental disorders Version 2.0 Component of the following Super Panels: Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476 BANDDOS
Green CSF1R in Mendeliome Version 1.3802	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 Osteopetrosis Level 2: Skeletal disorders Version 0.98	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476 BANDDOS
Green CSF1R in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.309 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 0.601	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476 BANDDOS
Green CSF1R in Immune_markers_WTS_UMCCR Level 2: Cancer Version 0.77	0 reviews	Unknown	Sources Expert list Expert Review Green Tags umccr
Amber CSF1R in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476 BANDDOS
Green CSF1R in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 1.162 Component of the following Super Panels: Neuromuscular Superpanel Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Expert Review Green 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 0.153 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 1.482	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 1.141	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids