{"count":9,"next":null,"previous":null,"results":[{"gene_data":{"alias":["C-FMS","CSFR","CD115"],"biotype":"protein_coding","hgnc_id":"HGNC:2433","gene_name":"colony stimulating factor 1 receptor","omim_gene":["164770"],"alias_name":null,"gene_symbol":"CSF1R","hgnc_symbol":"CSF1R","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:149432854-149492935","ensembl_id":"ENSG00000182578"}},"GRch38":{"90":{"location":"5:150053291-150113372","ensembl_id":"ENSG00000182578"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"CSF1R","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["23787135"],"evidence":["Expert Review Green","Expert"],"phenotypes":["diffuse leukoencephalopathy with spheroids","dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":["adult-onset"],"panel":{"id":39,"hash_id":"58078e6e8f62030e233a8157","name":"Parkinson Disease and Complex Parkinsonism","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neurodegenerative disorders","status":"public","version":"1.66","version_created":"2019-06-20T15:15:15.111993Z","relevant_disorders":["Complex Parkinsonism (includes pallido-pyramidal syndromes)","Early onset and familial Parkinson's Disease"],"stats":{"number_of_genes":57,"number_of_strs":9,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["C-FMS","CSFR","CD115"],"biotype":"protein_coding","hgnc_id":"HGNC:2433","gene_name":"colony stimulating factor 1 receptor","omim_gene":["164770"],"alias_name":null,"gene_symbol":"CSF1R","hgnc_symbol":"CSF1R","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:149432854-149492935","ensembl_id":"ENSG00000182578"}},"GRch38":{"90":{"location":"5:150053291-150113372","ensembl_id":"ENSG00000182578"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"CSF1R","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","UKGTN"],"phenotypes":["Dementia"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["adult-onset"],"panel":{"id":265,"hash_id":"55b6173522c1fc05fc7a1855","name":"Early onset dementia (encompassing fronto-temporal dementia and prion disease)","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neurodegenerative disorders","status":"public","version":"1.48","version_created":"2019-06-20T15:15:01.659131Z","relevant_disorders":[],"stats":{"number_of_genes":31,"number_of_strs":9,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["C-FMS","CSFR","CD115"],"biotype":"protein_coding","hgnc_id":"HGNC:2433","gene_name":"colony stimulating factor 1 receptor","omim_gene":["164770"],"alias_name":null,"gene_symbol":"CSF1R","hgnc_symbol":"CSF1R","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:149432854-149492935","ensembl_id":"ENSG00000182578"}},"GRch38":{"90":{"location":"5:150053291-150113372","ensembl_id":"ENSG00000182578"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"CSF1R","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_605"],"evidence":["Expert Review Green"],"phenotypes":["General Leukodystrophy & Mitochondrial Leukoencephalopathy"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":476,"hash_id":null,"name":"White matter disorders and cerebral calcification - narrow panel","disease_group":"","disease_sub_group":"","status":"public","version":"1.9","version_created":"2019-08-08T11:56:25.970239Z","relevant_disorders":[],"stats":{"number_of_genes":191,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["C-FMS","CSFR","CD115"],"biotype":"protein_coding","hgnc_id":"HGNC:2433","gene_name":"colony stimulating factor 1 receptor","omim_gene":["164770"],"alias_name":null,"gene_symbol":"CSF1R","hgnc_symbol":"CSF1R","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:149432854-149492935","ensembl_id":"ENSG00000182578"}},"GRch38":{"90":{"location":"5:150053291-150113372","ensembl_id":"ENSG00000182578"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"CSF1R","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27159321","25527826","28334938","20301621","24357685"],"evidence":["Expert Review Green","NHS GMS","Yorkshire and North East GLH"],"phenotypes":["Leukoencephalopathy, diffuse hereditary, with spheroids, 221820"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":579,"hash_id":null,"name":"White matter disorders - adult onset","disease_group":"","disease_sub_group":"","status":"public","version":"0.21","version_created":"2019-09-13T16:22:23.981754Z","relevant_disorders":["R62"],"stats":{"number_of_genes":77,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"}]}},{"gene_data":{"alias":["C-FMS","CSFR","CD115"],"biotype":"protein_coding","hgnc_id":"HGNC:2433","gene_name":"colony stimulating factor 1 receptor","omim_gene":["164770"],"alias_name":null,"gene_symbol":"CSF1R","hgnc_symbol":"CSF1R","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:149432854-149492935","ensembl_id":"ENSG00000182578"}},"GRch38":{"90":{"location":"5:150053291-150113372","ensembl_id":"ENSG00000182578"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"CSF1R","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_605"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["General Leukodystrophy & Mitochondrial Leukoencephalopathy"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":["adult-onset"],"panel":{"id":42,"hash_id":"568f920822c1fc1c79ca177a","name":"Inherited white matter disorders","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"White matter disorders","status":"public","version":"1.71","version_created":"2019-08-08T12:01:29.978699Z","relevant_disorders":["Leukodystrophy - adult onset"],"stats":{"number_of_genes":166,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["C-FMS","CSFR","CD115"],"biotype":"protein_coding","hgnc_id":"HGNC:2433","gene_name":"colony stimulating factor 1 receptor","omim_gene":["164770"],"alias_name":null,"gene_symbol":"CSF1R","hgnc_symbol":"CSF1R","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:149432854-149492935","ensembl_id":"ENSG00000182578"}},"GRch38":{"90":{"location":"5:150053291-150113372","ensembl_id":"ENSG00000182578"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"CSF1R","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22197934","23038421","23787135"],"evidence":["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","Dementia","diffuse leukoencephalopathy with spheroids"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":["adult-onset"],"panel":{"id":474,"hash_id":null,"name":"Neurodegenerative disorders - adult onset","disease_group":"","disease_sub_group":"","status":"public","version":"1.106","version_created":"2019-09-20T16:19:10.101841Z","relevant_disorders":["R58"],"stats":{"number_of_genes":395,"number_of_strs":18,"number_of_regions":4},"types":[{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."}]}},{"gene_data":{"alias":["C-FMS","CSFR","CD115"],"biotype":"protein_coding","hgnc_id":"HGNC:2433","gene_name":"colony stimulating factor 1 receptor","omim_gene":["164770"],"alias_name":null,"gene_symbol":"CSF1R","hgnc_symbol":"CSF1R","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:149432854-149492935","ensembl_id":"ENSG00000182578"}},"GRch38":{"90":{"location":"5:150053291-150113372","ensembl_id":"ENSG00000182578"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"CSF1R","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30982608","30982609"],"evidence":["Expert Review Green","DD-Gene2Phenotype"],"phenotypes":["BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS 618476"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":484,"hash_id":null,"name":"DDG2P","disease_group":"","disease_sub_group":"","status":"public","version":"1.137","version_created":"2019-10-08T15:56:59.220133Z","relevant_disorders":[],"stats":{"number_of_genes":1893,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["C-FMS","CSFR","CD115"],"biotype":"protein_coding","hgnc_id":"HGNC:2433","gene_name":"colony stimulating factor 1 receptor","omim_gene":["164770"],"alias_name":null,"gene_symbol":"CSF1R","hgnc_symbol":"CSF1R","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:149432854-149492935","ensembl_id":"ENSG00000182578"}},"GRch38":{"90":{"location":"5:150053291-150113372","ensembl_id":"ENSG00000182578"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"CSF1R","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Leukoencephalopathy, diffuse hereditary, with spheroids, 221820"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":["adult-onset"],"panel":{"id":285,"hash_id":"558aa423bb5a16630e15b63c","name":"Intellectual disability","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neurodevelopmental disorders","status":"public","version":"2.1065","version_created":"2019-10-07T13:42:16.019766Z","relevant_disorders":["Coarse facial features including Coffin-Siris-like disorders","ID","Moderate","severe or profound intellectual disability","Schizophrenia plus additional features","Intellectual disability - microarray","fragile X and sequencing"],"stats":{"number_of_genes":2253,"number_of_strs":11,"number_of_regions":57},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["C-FMS","CSFR","CD115"],"biotype":"protein_coding","hgnc_id":"HGNC:2433","gene_name":"colony stimulating factor 1 receptor","omim_gene":["164770"],"alias_name":null,"gene_symbol":"CSF1R","hgnc_symbol":"CSF1R","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:149432854-149492935","ensembl_id":"ENSG00000182578"}},"GRch38":{"90":{"location":"5:150053291-150113372","ensembl_id":"ENSG00000182578"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"CSF1R","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23787135"],"evidence":["NHS GMS","London North GLH","Expert Review Green"],"phenotypes":["dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy","diffuse leukoencephalopathy with spheroids"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":540,"hash_id":null,"name":"Adult onset movement disorder","disease_group":"","disease_sub_group":"","status":"public","version":"0.125","version_created":"2019-09-29T14:25:05.513850Z","relevant_disorders":["R56"],"stats":{"number_of_genes":202,"number_of_strs":11,"number_of_regions":1},"types":[{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"}]}}]}
