{"count":8,"next":null,"previous":null,"results":[{"gene_data":{"alias":["PiT-2","Glvr-2","Ram-1"],"biotype":"protein_coding","hgnc_id":"HGNC:10947","gene_name":"solute carrier family 20 member 2","omim_gene":["158378"],"alias_name":null,"gene_symbol":"SLC20A2","hgnc_symbol":"SLC20A2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:42273993-42397069","ensembl_id":"ENSG00000168575"}},"GRch38":{"90":{"location":"8:42416475-42541926","ensembl_id":"ENSG00000168575"}}},"hgnc_date_symbol_changed":"1993-06-18"},"entity_type":"gene","entity_name":"SLC20A2","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Emory Genetics Laboratory"],"phenotypes":["Dystonia"],"mode_of_inheritance":"","tags":[],"panel":{"id":192,"hash_id":"553f95c9bb5a1616e5ed45bf","name":"Early onset dystonia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor Disorders of the CNS","status":"public","version":"1.81","version_created":"2019-09-23T11:22:14.418180Z","relevant_disorders":[],"stats":{"number_of_genes":111,"number_of_strs":4,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["PiT-2","Glvr-2","Ram-1"],"biotype":"protein_coding","hgnc_id":"HGNC:10947","gene_name":"solute carrier family 20 member 2","omim_gene":["158378"],"alias_name":null,"gene_symbol":"SLC20A2","hgnc_symbol":"SLC20A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:42273993-42397069","ensembl_id":"ENSG00000168575"}},"GRch38":{"90":{"location":"8:42416475-42541926","ensembl_id":"ENSG00000168575"}}},"hgnc_date_symbol_changed":"1993-06-18"},"entity_type":"gene","entity_name":"SLC20A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27245298 - SLC20A2 exon deletions reported in 4 patients with primary brain calcification","26129893","27726124 - Copy number analysis of the WGS data revealed a heterozygous deletion of ~578 kb on chromosome 8. The deletion removes the 5' UTR region, the noncoding exon 1 and the putative promoter region of SLC20A2 as well as the coding regions of six other genes"],"evidence":["Expert Review Green"],"phenotypes":["Fahr syndrome","Basal ganglia calcification, idiopathic, 1, 213600","Familial Idiopathic Basal Ganglia Calcification"],"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":["PiT-2","Glvr-2","Ram-1"],"biotype":"protein_coding","hgnc_id":"HGNC:10947","gene_name":"solute carrier family 20 member 2","omim_gene":["158378"],"alias_name":null,"gene_symbol":"SLC20A2","hgnc_symbol":"SLC20A2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:42273993-42397069","ensembl_id":"ENSG00000168575"}},"GRch38":{"90":{"location":"8:42416475-42541926","ensembl_id":"ENSG00000168575"}}},"hgnc_date_symbol_changed":"1993-06-18"},"entity_type":"gene","entity_name":"SLC20A2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Basal ganglia calcification, idiopathic, 1 213600"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":180,"hash_id":"56ba024322c1fc5025762b4d","name":"Structural basal ganglia disorders","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor Disorders of the CNS","status":"public","version":"1.17","version_created":"2019-09-04T09:40:29.765078Z","relevant_disorders":[],"stats":{"number_of_genes":76,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["PiT-2","Glvr-2","Ram-1"],"biotype":"protein_coding","hgnc_id":"HGNC:10947","gene_name":"solute carrier family 20 member 2","omim_gene":["158378"],"alias_name":null,"gene_symbol":"SLC20A2","hgnc_symbol":"SLC20A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:42273993-42397069","ensembl_id":"ENSG00000168575"}},"GRch38":{"90":{"location":"8:42416475-42541926","ensembl_id":"ENSG00000168575"}}},"hgnc_date_symbol_changed":"1993-06-18"},"entity_type":"gene","entity_name":"SLC20A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["Dystonia","Basal ganglia calcification, idiopathic, 1 213600"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":475,"hash_id":null,"name":"Dystonia - childhood onset","disease_group":"","disease_sub_group":"","status":"public","version":"1.8","version_created":"2019-09-09T13:17:58.240159Z","relevant_disorders":[],"stats":{"number_of_genes":176,"number_of_strs":7,"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)"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["PiT-2","Glvr-2","Ram-1"],"biotype":"protein_coding","hgnc_id":"HGNC:10947","gene_name":"solute carrier family 20 member 2","omim_gene":["158378"],"alias_name":null,"gene_symbol":"SLC20A2","hgnc_symbol":"SLC20A2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:42273993-42397069","ensembl_id":"ENSG00000168575"}},"GRch38":{"90":{"location":"8:42416475-42541926","ensembl_id":"ENSG00000168575"}}},"hgnc_date_symbol_changed":"1993-06-18"},"entity_type":"gene","entity_name":"SLC20A2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["26129893","27245298 - SLC20A2 exon deletions reported in 4 patients with primary brain calcification","27726124 - Copy number analysis of the WGS data revealed a heterozygous deletion of ~578 kb on chromosome 8. The deletion removes the 5' UTR region, the noncoding exon 1 and the putative promoter region of SLC20A2 as well as the coding regions of six other genes"],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen","Expert list"],"phenotypes":["Basal ganglia calcification, idiopathic, 1, 213600","Familial Idiopathic Basal Ganglia Calcification","Fahr syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":["deletions"],"panel":{"id":315,"hash_id":"568f8db422c1fc1c79ca1777","name":"Intracerebral calcification disorders","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Parenchymal brain disorders","status":"public","version":"1.17","version_created":"2019-09-03T13:06:35.675079Z","relevant_disorders":[],"stats":{"number_of_genes":26,"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":["PiT-2","Glvr-2","Ram-1"],"biotype":"protein_coding","hgnc_id":"HGNC:10947","gene_name":"solute carrier family 20 member 2","omim_gene":["158378"],"alias_name":null,"gene_symbol":"SLC20A2","hgnc_symbol":"SLC20A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:42273993-42397069","ensembl_id":"ENSG00000168575"}},"GRch38":{"90":{"location":"8:42416475-42541926","ensembl_id":"ENSG00000168575"}}},"hgnc_date_symbol_changed":"1993-06-18"},"entity_type":"gene","entity_name":"SLC20A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24065723","24135862"],"evidence":["Yorkshire and North East GLH","Expert Review Green","NHS GMS","London North GLH"],"phenotypes":["Dystonia","Basal ganglia calcification, idiopathic, 1, 158378"],"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":["PiT-2","Glvr-2","Ram-1"],"biotype":"protein_coding","hgnc_id":"HGNC:10947","gene_name":"solute carrier family 20 member 2","omim_gene":["158378"],"alias_name":null,"gene_symbol":"SLC20A2","hgnc_symbol":"SLC20A2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:42273993-42397069","ensembl_id":"ENSG00000168575"}},"GRch38":{"90":{"location":"8:42416475-42541926","ensembl_id":"ENSG00000168575"}}},"hgnc_date_symbol_changed":"1993-06-18"},"entity_type":"gene","entity_name":"SLC20A2","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Red","Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Basal ganglia calcification, idiopathic, 1","13600","Idiopathic basal ganglia calcification, adult onset","Basal ganglia calcification, idiopathic, childhood onset"],"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":["PiT-2","Glvr-2","Ram-1"],"biotype":"protein_coding","hgnc_id":"HGNC:10947","gene_name":"solute carrier family 20 member 2","omim_gene":["158378"],"alias_name":null,"gene_symbol":"SLC20A2","hgnc_symbol":"SLC20A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:42273993-42397069","ensembl_id":"ENSG00000168575"}},"GRch38":{"90":{"location":"8:42416475-42541926","ensembl_id":"ENSG00000168575"}}},"hgnc_date_symbol_changed":"1993-06-18"},"entity_type":"gene","entity_name":"SLC20A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","London North GLH","Expert Review Green"],"phenotypes":["Basal ganglia calcification, idiopathic, 1 213600"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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)"}]}}]}
