{"count":4,"next":null,"previous":null,"results":[{"gene_data":{"alias":["ARH","ARH2","FHCB1","FHCB2","MGC34705","DKFZp586D0624"],"biotype":"protein_coding","hgnc_id":"HGNC:18640","gene_name":"low density lipoprotein receptor adaptor protein 1","omim_gene":["605747"],"alias_name":null,"gene_symbol":"LDLRAP1","hgnc_symbol":"LDLRAP1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:25870071-25895377","ensembl_id":"ENSG00000157978"}},"GRch38":{"90":{"location":"1:25543580-25568886","ensembl_id":"ENSG00000157978"}}},"hgnc_date_symbol_changed":"2005-02-24"},"entity_type":"gene","entity_name":"LDLRAP1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","UKGTN","Emory Genetics Laboratory","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen"],"phenotypes":["Hypercholesterolemia, familial, autosomal recessive, 603813","Familial Hypercholesterolemia","Hypercholesterolemia","Familial Hypercholesterolaemia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["ARH","ARH2","FHCB1","FHCB2","MGC34705","DKFZp586D0624"],"biotype":"protein_coding","hgnc_id":"HGNC:18640","gene_name":"low density lipoprotein receptor adaptor protein 1","omim_gene":["605747"],"alias_name":null,"gene_symbol":"LDLRAP1","hgnc_symbol":"LDLRAP1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:25870071-25895377","ensembl_id":"ENSG00000157978"}},"GRch38":{"90":{"location":"1:25543580-25568886","ensembl_id":"ENSG00000157978"}}},"hgnc_date_symbol_changed":"2005-02-24"},"entity_type":"gene","entity_name":"LDLRAP1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308","11326085","12016260","12958143","15599766","29245109"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Hypercholesterolemia, familial, 4 603813"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["ARH","ARH2","FHCB1","FHCB2","MGC34705","DKFZp586D0624"],"biotype":"protein_coding","hgnc_id":"HGNC:18640","gene_name":"low density lipoprotein receptor adaptor protein 1","omim_gene":["605747"],"alias_name":null,"gene_symbol":"LDLRAP1","hgnc_symbol":"LDLRAP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:25870071-25895377","ensembl_id":"ENSG00000157978"}},"GRch38":{"90":{"location":"1:25543580-25568886","ensembl_id":"ENSG00000157978"}}},"hgnc_date_symbol_changed":"2005-02-24"},"entity_type":"gene","entity_name":"LDLRAP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308","11326085","12016260","12958143","15599766","29245109"],"evidence":["Expert Review Green","London North GLH","NHS GMS"],"phenotypes":["Hypercholesterolemia, familial, 4 603813"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["ARH","ARH2","FHCB1","FHCB2","MGC34705","DKFZp586D0624"],"biotype":"protein_coding","hgnc_id":"HGNC:18640","gene_name":"low density lipoprotein receptor adaptor protein 1","omim_gene":["605747"],"alias_name":null,"gene_symbol":"LDLRAP1","hgnc_symbol":"LDLRAP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:25870071-25895377","ensembl_id":"ENSG00000157978"}},"GRch38":{"90":{"location":"1:25543580-25568886","ensembl_id":"ENSG00000157978"}}},"hgnc_date_symbol_changed":"2005-02-24"},"entity_type":"gene","entity_name":"LDLRAP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12417523"],"evidence":["Emory Genetics Laboratory","Illumina TruGenome Clinical Sequencing Services","Expert Review Green","UKGTN","Radboud University Medical Center, Nijmegen"],"phenotypes":["Hypercholesterolemia, familial, autosomal recessive","Familial Hypercholesterolemia","Familial Hypercholesterolaemia","Hypercholesterolemia","Hypercholesterolemia, familial, 4, 603813"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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)"}]}}]}
