{"count":5,"next":null,"previous":null,"results":[{"gene_data":{"alias":["LH3"],"biotype":"protein_coding","hgnc_id":"HGNC:9083","gene_name":"procollagen-lysine,2-oxoglutarate 5-dioxygenase 3","omim_gene":["603066"],"alias_name":["lysyl hydroxlase 3"],"gene_symbol":"PLOD3","hgnc_symbol":"PLOD3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:100849258-100861701","ensembl_id":"ENSG00000106397"}},"GRch38":{"90":{"location":"7:101205977-101218420","ensembl_id":"ENSG00000106397"}}},"hgnc_date_symbol_changed":"1998-09-25"},"entity_type":"gene","entity_name":"PLOD3","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["ClinGen","Expert Review Red"],"phenotypes":["Familial thoracic aortic aneurysm and aortic dissection"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":210,"hash_id":"594be3878f62037ee3e7e72f","name":"ClinGen_Familial thoracic aortic aneurysm and aortic dissection","disease_group":"","disease_sub_group":"","status":"public","version":"0.10","version_created":"2017-11-05T02:37:20.232365Z","relevant_disorders":[],"stats":{"number_of_genes":53,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"ClinGen Curated genes","slug":"clingen-curated-genes","description":"ClinGen Curated genes"}]}},{"gene_data":{"alias":["LH3"],"biotype":"protein_coding","hgnc_id":"HGNC:9083","gene_name":"procollagen-lysine,2-oxoglutarate 5-dioxygenase 3","omim_gene":["603066"],"alias_name":["lysyl hydroxlase 3"],"gene_symbol":"PLOD3","hgnc_symbol":"PLOD3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:100849258-100861701","ensembl_id":"ENSG00000106397"}},"GRch38":{"90":{"location":"7:101205977-101218420","ensembl_id":"ENSG00000106397"}}},"hgnc_date_symbol_changed":"1998-09-25"},"entity_type":"gene","entity_name":"PLOD3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber"],"phenotypes":[],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":554,"hash_id":null,"name":"Epidermolysis bullosa and congenital skin fragility","disease_group":"","disease_sub_group":"","status":"public","version":"0.16","version_created":"2019-09-17T18:43:54.606444Z","relevant_disorders":[],"stats":{"number_of_genes":46,"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":["LH3"],"biotype":"protein_coding","hgnc_id":"HGNC:9083","gene_name":"procollagen-lysine,2-oxoglutarate 5-dioxygenase 3","omim_gene":["603066"],"alias_name":["lysyl hydroxlase 3"],"gene_symbol":"PLOD3","hgnc_symbol":"PLOD3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:100849258-100861701","ensembl_id":"ENSG00000106397"}},"GRch38":{"90":{"location":"7:101205977-101218420","ensembl_id":"ENSG00000106397"}}},"hgnc_date_symbol_changed":"1998-09-25"},"entity_type":"gene","entity_name":"PLOD3","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["18834968"],"evidence":["Expert Review"],"phenotypes":["Lysyl hydroxylase 3 deficiency, 612394"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":53,"hash_id":"588728f38f62030cf7152165","name":"Ehlers Danlos syndromes","disease_group":"Rheumatological disorders","disease_sub_group":"Connective tissues disorders","status":"public","version":"2.1","version_created":"2019-10-09T07:04:44.655768Z","relevant_disorders":["Classical Ehlers Danlos Syndrome","Classical Ehlers-Danlos Syndrome","Ehlers-Danlos Syndrome (unusual phenotypes e.g. absent pain sense)","Ehlers-Danlos syndrome type 3","Kyphoscoliotic Ehlers-Danlos syndrome","EDS","Ehlers-Danlos syndromes","R101"],"stats":{"number_of_genes":75,"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":"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":["LH3"],"biotype":"protein_coding","hgnc_id":"HGNC:9083","gene_name":"procollagen-lysine,2-oxoglutarate 5-dioxygenase 3","omim_gene":["603066"],"alias_name":["lysyl hydroxlase 3"],"gene_symbol":"PLOD3","hgnc_symbol":"PLOD3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:100849258-100861701","ensembl_id":"ENSG00000106397"}},"GRch38":{"90":{"location":"7:101205977-101218420","ensembl_id":"ENSG00000106397"}}},"hgnc_date_symbol_changed":"1998-09-25"},"entity_type":"gene","entity_name":"PLOD3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["18834968"],"evidence":["DD-Gene2Phenotype","Expert Review Red"],"phenotypes":["LYSYL HYDROXYLASE 3 DEFICIENCY 612394"],"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":["LH3"],"biotype":"protein_coding","hgnc_id":"HGNC:9083","gene_name":"procollagen-lysine,2-oxoglutarate 5-dioxygenase 3","omim_gene":["603066"],"alias_name":["lysyl hydroxlase 3"],"gene_symbol":"PLOD3","hgnc_symbol":"PLOD3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:100849258-100861701","ensembl_id":"ENSG00000106397"}},"GRch38":{"90":{"location":"7:101205977-101218420","ensembl_id":"ENSG00000106397"}}},"hgnc_date_symbol_changed":"1998-09-25"},"entity_type":"gene","entity_name":"PLOD3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["18834968"],"evidence":["Expert Review Red"],"phenotypes":["Lysyl hydroxylase 3 deficiency, 612394"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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"}]}}]}