{"count":11,"next":null,"previous":null,"results":[{"gene_data":{"alias":["PCDGF","PGRN","CLN11"],"biotype":"protein_coding","hgnc_id":"HGNC:4601","gene_name":"granulin precursor","omim_gene":["138945"],"alias_name":["progranulin"],"gene_symbol":"GRN","hgnc_symbol":"GRN","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"17:42422614-42430470","ensembl_id":"ENSG00000030582"}},"GRch38":{"90":{"location":"17:44345086-44353102","ensembl_id":"ENSG00000030582"}}},"hgnc_date_symbol_changed":"1992-11-30"},"entity_type":"gene","entity_name":"GRN","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Emory Genetics Laboratory"],"phenotypes":["Eye Disorders"],"mode_of_inheritance":"","tags":[],"panel":{"id":249,"hash_id":"55507b25bb5a161bf644a3b2","name":"Glaucoma (developmental)","disease_group":"Ophthalmological disorders","disease_sub_group":"Anterior segment abnormalities","status":"public","version":"1.5","version_created":"2019-06-20T15:15:07.662717Z","relevant_disorders":[],"stats":{"number_of_genes":224,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["PCDGF","PGRN","CLN11"],"biotype":"protein_coding","hgnc_id":"HGNC:4601","gene_name":"granulin precursor","omim_gene":["138945"],"alias_name":["progranulin"],"gene_symbol":"GRN","hgnc_symbol":"GRN","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"17:42422614-42430470","ensembl_id":"ENSG00000030582"}},"GRch38":{"90":{"location":"17:44345086-44353102","ensembl_id":"ENSG00000030582"}}},"hgnc_date_symbol_changed":"1992-11-30"},"entity_type":"gene","entity_name":"GRN","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["20301545","17923627"],"evidence":["Expert Review Green","Eligibility statement prior genetic testing","Expert"],"phenotypes":["clinical presentation suggestive of cortico-basal/PSP syndrome","frontotemporal lobar degeneration with TDP43 inclusions","Complex parkinsonism"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"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":["PCDGF","PGRN","CLN11"],"biotype":"protein_coding","hgnc_id":"HGNC:4601","gene_name":"granulin precursor","omim_gene":["138945"],"alias_name":["progranulin"],"gene_symbol":"GRN","hgnc_symbol":"GRN","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"17:42422614-42430470","ensembl_id":"ENSG00000030582"}},"GRch38":{"90":{"location":"17:44345086-44353102","ensembl_id":"ENSG00000030582"}}},"hgnc_date_symbol_changed":"1992-11-30"},"entity_type":"gene","entity_name":"GRN","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Eligibility statement prior genetic testing","UKGTN","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Frontotemporal Dementia","Clinical syndrome FTLD (Frontotemporal lobar degeneration)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"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":["PCDGF","PGRN","CLN11"],"biotype":"protein_coding","hgnc_id":"HGNC:4601","gene_name":"granulin precursor","omim_gene":["138945"],"alias_name":["progranulin"],"gene_symbol":"GRN","hgnc_symbol":"GRN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:42422614-42430470","ensembl_id":"ENSG00000030582"}},"GRch38":{"90":{"location":"17:44345086-44353102","ensembl_id":"ENSG00000030582"}}},"hgnc_date_symbol_changed":"1992-11-30"},"entity_type":"gene","entity_name":"GRN","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Amber","London North GLH"],"phenotypes":[],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":526,"hash_id":null,"name":"Neuronal ceroid lipofuscinosis","disease_group":"","disease_sub_group":"","status":"public","version":"1.0","version_created":"2019-09-17T11:18:49.005877Z","relevant_disorders":["R231"],"stats":{"number_of_genes":14,"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":"GMS signed-off","slug":"gms-signed-off","description":"This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."}]}},{"gene_data":{"alias":["PCDGF","PGRN","CLN11"],"biotype":"protein_coding","hgnc_id":"HGNC:4601","gene_name":"granulin precursor","omim_gene":["138945"],"alias_name":["progranulin"],"gene_symbol":"GRN","hgnc_symbol":"GRN","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"17:42422614-42430470","ensembl_id":"ENSG00000030582"}},"GRch38":{"90":{"location":"17:44345086-44353102","ensembl_id":"ENSG00000030582"}}},"hgnc_date_symbol_changed":"1992-11-30"},"entity_type":"gene","entity_name":"GRN","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Radboud University Medical Center, Nijmegen"],"phenotypes":["Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485Myasthenia, limb-girdle, familial, 254300"],"mode_of_inheritance":"","tags":[],"panel":{"id":258,"hash_id":"55b75d5b22c1fc05fd2345c9","name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neuromuscular disorders","status":"public","version":"2.45","version_created":"2019-10-07T10:19:07.721001Z","relevant_disorders":["Arthrogrythsis"],"stats":{"number_of_genes":246,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"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":["PCDGF","PGRN","CLN11"],"biotype":"protein_coding","hgnc_id":"HGNC:4601","gene_name":"granulin precursor","omim_gene":["138945"],"alias_name":["progranulin"],"gene_symbol":"GRN","hgnc_symbol":"GRN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:42422614-42430470","ensembl_id":"ENSG00000030582"}},"GRch38":{"90":{"location":"17:44345086-44353102","ensembl_id":"ENSG00000030582"}}},"hgnc_date_symbol_changed":"1992-11-30"},"entity_type":"gene","entity_name":"GRN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301545","17923627"],"evidence":["Wessex and West Midlands GLH","Yorkshire and North East GLH","NHS GMS","London North GLH","Expert Review Green"],"phenotypes":["clinical presentation suggestive of cortico-basal/PSP syndrome","Complex parkinsonism","Frontotemporal Dementia","frontotemporal lobar degeneration with TDP43 inclusions","Clinical syndrome FTLD (Frontotemporal lobar degeneration)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"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":["PCDGF","PGRN","CLN11"],"biotype":"protein_coding","hgnc_id":"HGNC:4601","gene_name":"granulin precursor","omim_gene":["138945"],"alias_name":["progranulin"],"gene_symbol":"GRN","hgnc_symbol":"GRN","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"17:42422614-42430470","ensembl_id":"ENSG00000030582"}},"GRch38":{"90":{"location":"17:44345086-44353102","ensembl_id":"ENSG00000030582"}}},"hgnc_date_symbol_changed":"1992-11-30"},"entity_type":"gene","entity_name":"GRN","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Expert"],"phenotypes":[],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":263,"hash_id":"55d30b0322c1fc2ff2a5bf7b","name":"Amyotrophic lateral sclerosis/motor neuron disease","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neurodegenerative disorders","status":"public","version":"1.29","version_created":"2019-06-20T15:14:55.521778Z","relevant_disorders":["Amyotrophic lateral sclerosis or motor neuron disease"],"stats":{"number_of_genes":30,"number_of_strs":4,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["PCDGF","PGRN","CLN11"],"biotype":"protein_coding","hgnc_id":"HGNC:4601","gene_name":"granulin precursor","omim_gene":["138945"],"alias_name":["progranulin"],"gene_symbol":"GRN","hgnc_symbol":"GRN","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"17:42422614-42430470","ensembl_id":"ENSG00000030582"}},"GRch38":{"90":{"location":"17:44345086-44353102","ensembl_id":"ENSG00000030582"}}},"hgnc_date_symbol_changed":"1992-11-30"},"entity_type":"gene","entity_name":"GRN","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Expert Review Red","Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485","Aphasia, primary progressive, 607485","Ceroid lipofuscinosis, neuronal, 11, 614706"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"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":["PCDGF","PGRN","CLN11"],"biotype":"protein_coding","hgnc_id":"HGNC:4601","gene_name":"granulin precursor","omim_gene":["138945"],"alias_name":["progranulin"],"gene_symbol":"GRN","hgnc_symbol":"GRN","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"17:42422614-42430470","ensembl_id":"ENSG00000030582"}},"GRch38":{"90":{"location":"17:44345086-44353102","ensembl_id":"ENSG00000030582"}}},"hgnc_date_symbol_changed":"1992-11-30"},"entity_type":"gene","entity_name":"GRN","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Red"],"phenotypes":["Eye Disorders"],"mode_of_inheritance":"","tags":[],"panel":{"id":307,"hash_id":"56e0238b22c1fc09c97a6e46","name":"Retinal disorders","disease_group":"Ophthalmological disorders","disease_sub_group":"Posterior segment abnormalities","status":"public","version":"1.199","version_created":"2019-10-08T09:22:18.436205Z","relevant_disorders":["Posterior segment abnormalities","Cone Dysfunction Syndrome","Developmental macular and foveal dystrophy","Inherited macular dystrophy","Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy","Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy","Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy","Rod Dysfunction Syndrome","Rod-cone dystrophy","Familial exudative vitreoretinopathy","Familial exudative retinopathy","R32","R33","R34","R35"],"stats":{"number_of_genes":320,"number_of_strs":0,"number_of_regions":0},"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."}]}},{"gene_data":{"alias":["PCDGF","PGRN","CLN11"],"biotype":"protein_coding","hgnc_id":"HGNC:4601","gene_name":"granulin precursor","omim_gene":["138945"],"alias_name":["progranulin"],"gene_symbol":"GRN","hgnc_symbol":"GRN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:42422614-42430470","ensembl_id":"ENSG00000030582"}},"GRch38":{"90":{"location":"17:44345086-44353102","ensembl_id":"ENSG00000030582"}}},"hgnc_date_symbol_changed":"1992-11-30"},"entity_type":"gene","entity_name":"GRN","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Red"],"phenotypes":["CEROID LIPOFUSCINOSIS, NEURONAL, 11, 614706","Eye Disorders"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":509,"hash_id":null,"name":"Structural eye disease","disease_group":"","disease_sub_group":"","status":"public","version":"0.93","version_created":"2019-10-09T13:18:12.923145Z","relevant_disorders":["R36"],"stats":{"number_of_genes":456,"number_of_strs":0,"number_of_regions":2},"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":["PCDGF","PGRN","CLN11"],"biotype":"protein_coding","hgnc_id":"HGNC:4601","gene_name":"granulin precursor","omim_gene":["138945"],"alias_name":["progranulin"],"gene_symbol":"GRN","hgnc_symbol":"GRN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:42422614-42430470","ensembl_id":"ENSG00000030582"}},"GRch38":{"90":{"location":"17:44345086-44353102","ensembl_id":"ENSG00000030582"}}},"hgnc_date_symbol_changed":"1992-11-30"},"entity_type":"gene","entity_name":"GRN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301545","17923627"],"evidence":["NHS GMS","London North GLH","Expert Review Green"],"phenotypes":["Complex parkinsonism","frontotemporal lobar degeneration with TDP43 inclusions","clinical presentation suggestive of cortico-basal/PSP syndrome"],"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)"}]}}]}
