{"count":5,"next":null,"previous":null,"results":[{"gene_data":{"alias":["NARC-1","FH3"],"biotype":"protein_coding","hgnc_id":"HGNC:20001","gene_name":"proprotein convertase subtilisin/kexin type 9","omim_gene":["607786"],"alias_name":null,"gene_symbol":"PCSK9","hgnc_symbol":"PCSK9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:55505221-55530525","ensembl_id":"ENSG00000169174"}},"GRch38":{"90":{"location":"1:55039548-55064852","ensembl_id":"ENSG00000169174"}}},"hgnc_date_symbol_changed":"2003-05-13"},"entity_type":"gene","entity_name":"PCSK9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":[],"evidence":["Expert Review Green","Additional Findings","ACMG"],"phenotypes":["NM_174936.3","Familial hypercholesterolaemia","Adult and child"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":399,"hash_id":null,"name":"Genomics England Additional Findings","disease_group":"","disease_sub_group":"","status":"public","version":"0.55","version_created":"2019-09-30T14:17:48.001206Z","relevant_disorders":[],"stats":{"number_of_genes":14,"number_of_strs":0,"number_of_regions":0},"types":[]}},{"gene_data":{"alias":["NARC-1","FH3"],"biotype":"protein_coding","hgnc_id":"HGNC:20001","gene_name":"proprotein convertase subtilisin/kexin type 9","omim_gene":["607786"],"alias_name":null,"gene_symbol":"PCSK9","hgnc_symbol":"PCSK9","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:55505221-55530525","ensembl_id":"ENSG00000169174"}},"GRch38":{"90":{"location":"1:55039548-55064852","ensembl_id":"ENSG00000169174"}}},"hgnc_date_symbol_changed":"2003-05-13"},"entity_type":"gene","entity_name":"PCSK9","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["PMID: 23433573"],"evidence":["Expert Review Green","UKGTN","Emory Genetics Laboratory","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen","Eligibility statement prior genetic testing"],"phenotypes":["Gene part of the Global Lipid Genetic Consortium 12-SNP LDL-C gene score calculation (Talmud et al, 2013)","Hypercholesterolemia, familial, 3, 603776","{Low density lipoprotein cholesterol level QTL 1}, 603776","Familial Hypercholesterolemia","Hypercholesterolemia","Familial Hypercholesterolaemia"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":6,"hash_id":"561518be22c1fc212900fb84","name":"Familial hypercholesterolaemia","disease_group":"Cardiovascular disorders","disease_sub_group":"Arteriopathies","status":"public","version":"1.26","version_created":"2019-10-07T15:50:14.542064Z","relevant_disorders":["Familial Hypercholesterolaemia","Familial Hypercholesterolemia"],"stats":{"number_of_genes":43,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["NARC-1","FH3"],"biotype":"protein_coding","hgnc_id":"HGNC:20001","gene_name":"proprotein convertase subtilisin/kexin type 9","omim_gene":["607786"],"alias_name":null,"gene_symbol":"PCSK9","hgnc_symbol":"PCSK9","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:55505221-55530525","ensembl_id":"ENSG00000169174"}},"GRch38":{"90":{"location":"1:55039548-55064852","ensembl_id":"ENSG00000169174"}}},"hgnc_date_symbol_changed":"2003-05-13"},"entity_type":"gene","entity_name":"PCSK9","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["27604308","12730697","14727179","15772090","15654334","16909389"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Hypercholesterolemia, familial, 3 603776","{Low density lipoprotein cholesterol level QTL 1} 603776"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":302,"hash_id":"5763f1518f620350a22bccdb","name":"Undiagnosed metabolic disorders","disease_group":"Metabolic disorders","disease_sub_group":"Specific metabolic abnormalities","status":"public","version":"1.373","version_created":"2019-10-08T14:47:17.153678Z","relevant_disorders":["Undiagnosed Metabolic Panel"],"stats":{"number_of_genes":744,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["NARC-1","FH3"],"biotype":"protein_coding","hgnc_id":"HGNC:20001","gene_name":"proprotein convertase subtilisin/kexin type 9","omim_gene":["607786"],"alias_name":null,"gene_symbol":"PCSK9","hgnc_symbol":"PCSK9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:55505221-55530525","ensembl_id":"ENSG00000169174"}},"GRch38":{"90":{"location":"1:55039548-55064852","ensembl_id":"ENSG00000169174"}}},"hgnc_date_symbol_changed":"2003-05-13"},"entity_type":"gene","entity_name":"PCSK9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["27604308","12730697","14727179","15772090","15654334","16909389"],"evidence":["Expert Review Green","London North GLH","NHS GMS"],"phenotypes":["Hypercholesterolemia, familial, 3 603776","{Low density lipoprotein cholesterol level QTL 1} 603776"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":467,"hash_id":null,"name":"Inborn errors of metabolism","disease_group":"","disease_sub_group":"","status":"public","version":"1.348","version_created":"2019-10-09T08:19:52.386941Z","relevant_disorders":["Likely inborn error of metabolism - targeted testing not possible"],"stats":{"number_of_genes":877,"number_of_strs":2,"number_of_regions":1},"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."},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["NARC-1","FH3"],"biotype":"protein_coding","hgnc_id":"HGNC:20001","gene_name":"proprotein convertase subtilisin/kexin type 9","omim_gene":["607786"],"alias_name":null,"gene_symbol":"PCSK9","hgnc_symbol":"PCSK9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:55505221-55530525","ensembl_id":"ENSG00000169174"}},"GRch38":{"90":{"location":"1:55039548-55064852","ensembl_id":"ENSG00000169174"}}},"hgnc_date_symbol_changed":"2003-05-13"},"entity_type":"gene","entity_name":"PCSK9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["16224054","23433573"],"evidence":["Emory Genetics Laboratory","Illumina TruGenome Clinical Sequencing Services","Expert Review Green","UKGTN","Radboud University Medical Center, Nijmegen"],"phenotypes":["Hypercholesterolemia, familial, 3, 603776","Familial Hypercholesterolaemia","Hypercholesterolemia","{Low density lipoprotein cholesterol level QTL 1}, 603776","Familial Hypercholesterolemia"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":772,"hash_id":null,"name":"Familial hypercholesterolaemia - targeted panel","disease_group":"","disease_sub_group":"","status":"public","version":"0.5","version_created":"2019-10-08T20:24:29.197091Z","relevant_disorders":[],"stats":{"number_of_genes":5,"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)"}]}}]}