{"count":11,"next":null,"previous":null,"results":[{"gene_data":{"alias":["DHCR14B","TDRD18"],"biotype":"protein_coding","hgnc_id":"HGNC:6518","gene_name":"lamin B receptor","omim_gene":["600024"],"alias_name":["tudor domain containing 18"],"gene_symbol":"LBR","hgnc_symbol":"LBR","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:225589204-225616627","ensembl_id":"ENSG00000143815"}},"GRch38":{"90":{"location":"1:225401502-225428925","ensembl_id":"ENSG00000143815"}}},"hgnc_date_symbol_changed":"1995-04-27"},"entity_type":"gene","entity_name":"LBR","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":["25348816","23824842","21327105","19940018","12490533"],"evidence":["ClinGen","Expert Review Amber","Other"],"phenotypes":["Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia","ORPHA448267"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":64,"hash_id":"58ee38f88f62033bda307d54","name":"ClinGen Gene Validity Curations","disease_group":"","disease_sub_group":"","status":"public","version":"0.64","version_created":"2019-06-20T15:10:34.572009Z","relevant_disorders":[],"stats":{"number_of_genes":47,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"ClinGen Curated genes","slug":"clingen-curated-genes","description":"ClinGen Curated genes"}]}},{"gene_data":{"alias":["DHCR14B","TDRD18"],"biotype":"protein_coding","hgnc_id":"HGNC:6518","gene_name":"lamin B receptor","omim_gene":["600024"],"alias_name":["tudor domain containing 18"],"gene_symbol":"LBR","hgnc_symbol":"LBR","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:225589204-225616627","ensembl_id":"ENSG00000143815"}},"GRch38":{"90":{"location":"1:225401502-225428925","ensembl_id":"ENSG00000143815"}}},"hgnc_date_symbol_changed":"1995-04-27"},"entity_type":"gene","entity_name":"LBR","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["3377005","12210303","8213919"],"evidence":["Expert Review Green","Other"],"phenotypes":["Greenberg skeletal dysplasia, 215140","hydrops-ectopic calcification-moth-eaten skeletal dysplasia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":144,"hash_id":"5763f4868f620350a199604f","name":"Fetal hydrops","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Fetal disorders","status":"public","version":"1.16","version_created":"2018-12-05T18:38:09.145885Z","relevant_disorders":[],"stats":{"number_of_genes":67,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["DHCR14B","TDRD18"],"biotype":"protein_coding","hgnc_id":"HGNC:6518","gene_name":"lamin B receptor","omim_gene":["600024"],"alias_name":["tudor domain containing 18"],"gene_symbol":"LBR","hgnc_symbol":"LBR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:225589204-225616627","ensembl_id":"ENSG00000143815"}},"GRch38":{"90":{"location":"1:225401502-225428925","ensembl_id":"ENSG00000143815"}}},"hgnc_date_symbol_changed":"1995-04-27"},"entity_type":"gene","entity_name":"LBR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["18382993","12618959","21327084","12118250","29068549"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["mesomelia","Greenberg skeletal dysplasia, 215140","rhizomelia","post-axial polydactyly","Polydactyly"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":384,"hash_id":null,"name":"Limb disorders","disease_group":"","disease_sub_group":"","status":"public","version":"1.61","version_created":"2019-10-03T10:01:34.398179Z","relevant_disorders":[],"stats":{"number_of_genes":234,"number_of_strs":0,"number_of_regions":1},"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":["DHCR14B","TDRD18"],"biotype":"protein_coding","hgnc_id":"HGNC:6518","gene_name":"lamin B receptor","omim_gene":["600024"],"alias_name":["tudor domain containing 18"],"gene_symbol":"LBR","hgnc_symbol":"LBR","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:225589204-225616627","ensembl_id":"ENSG00000143815"}},"GRch38":{"90":{"location":"1:225401502-225428925","ensembl_id":"ENSG00000143815"}}},"hgnc_date_symbol_changed":"1995-04-27"},"entity_type":"gene","entity_name":"LBR","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green","Expert list","UKGTN","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services",""],"phenotypes":["Pelger-Huet anomaly with mild skeletal anomalies 618019","Greenberg skeletal dysplasia 215140","Pelger-Huet anomaly 169400"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":309,"hash_id":"5693952f22c1fc251660fb1e","name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","status":"public","version":"1.203","version_created":"2019-10-03T09:38:50.417968Z","relevant_disorders":["Unexplained skeletal dysplasia","Skeletal dysplasia"],"stats":{"number_of_genes":546,"number_of_strs":1,"number_of_regions":6},"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":["DHCR14B","TDRD18"],"biotype":"protein_coding","hgnc_id":"HGNC:6518","gene_name":"lamin B receptor","omim_gene":["600024"],"alias_name":["tudor domain containing 18"],"gene_symbol":"LBR","hgnc_symbol":"LBR","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:225589204-225616627","ensembl_id":"ENSG00000143815"}},"GRch38":{"90":{"location":"1:225401502-225428925","ensembl_id":"ENSG00000143815"}}},"hgnc_date_symbol_changed":"1995-04-27"},"entity_type":"gene","entity_name":"LBR","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308","12118250","14617022","18382993","21327084","14684697","25348816","23824842"],"evidence":["Expert Review Green","Literature"],"phenotypes":["?Reynolds syndrome 613471","Greenberg skeletal dysplasia 215140","Pelger-Huet anomaly 169400","Pelger-Huet anomaly with mild skeletal anomalies 618019"],"mode_of_inheritance":"BOTH monoallelic and 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":["DHCR14B","TDRD18"],"biotype":"protein_coding","hgnc_id":"HGNC:6518","gene_name":"lamin B receptor","omim_gene":["600024"],"alias_name":["tudor domain containing 18"],"gene_symbol":"LBR","hgnc_symbol":"LBR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:225589204-225616627","ensembl_id":"ENSG00000143815"}},"GRch38":{"90":{"location":"1:225401502-225428925","ensembl_id":"ENSG00000143815"}}},"hgnc_date_symbol_changed":"1995-04-27"},"entity_type":"gene","entity_name":"LBR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308","12118250","14617022","18382993","21327084","14684697","25348816","23824842"],"evidence":["Expert Review Green","London North GLH","NHS GMS"],"phenotypes":["?Reynolds syndrome 613471","Greenberg skeletal dysplasia 215140","Pelger-Huet anomaly 169400","Pelger-Huet anomaly with mild skeletal anomalies 618019"],"mode_of_inheritance":"BOTH monoallelic and 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":["DHCR14B","TDRD18"],"biotype":"protein_coding","hgnc_id":"HGNC:6518","gene_name":"lamin B receptor","omim_gene":["600024"],"alias_name":["tudor domain containing 18"],"gene_symbol":"LBR","hgnc_symbol":"LBR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:225589204-225616627","ensembl_id":"ENSG00000143815"}},"GRch38":{"90":{"location":"1:225401502-225428925","ensembl_id":"ENSG00000143815"}}},"hgnc_date_symbol_changed":"1995-04-27"},"entity_type":"gene","entity_name":"LBR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["PAGE DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":478,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","status":"public","version":"0.344","version_created":"2019-09-17T09:38:10.568007Z","relevant_disorders":["R21"],"stats":{"number_of_genes":1721,"number_of_strs":0,"number_of_regions":0},"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":["DHCR14B","TDRD18"],"biotype":"protein_coding","hgnc_id":"HGNC:6518","gene_name":"lamin B receptor","omim_gene":["600024"],"alias_name":["tudor domain containing 18"],"gene_symbol":"LBR","hgnc_symbol":"LBR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:225589204-225616627","ensembl_id":"ENSG00000143815"}},"GRch38":{"90":{"location":"1:225401502-225428925","ensembl_id":"ENSG00000143815"}}},"hgnc_date_symbol_changed":"1995-04-27"},"entity_type":"gene","entity_name":"LBR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12618959"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA 215140"],"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":["DHCR14B","TDRD18"],"biotype":"protein_coding","hgnc_id":"HGNC:6518","gene_name":"lamin B receptor","omim_gene":["600024"],"alias_name":["tudor domain containing 18"],"gene_symbol":"LBR","hgnc_symbol":"LBR","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:225589204-225616627","ensembl_id":"ENSG00000143815"}},"GRch38":{"90":{"location":"1:225401502-225428925","ensembl_id":"ENSG00000143815"}}},"hgnc_date_symbol_changed":"1995-04-27"},"entity_type":"gene","entity_name":"LBR","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["12618959"],"evidence":["Victorian Clinical Genetics Services","Expert Review Red","Expert Review Red"],"phenotypes":["?Reynolds syndrome"],"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"}]}},{"gene_data":{"alias":["DHCR14B","TDRD18"],"biotype":"protein_coding","hgnc_id":"HGNC:6518","gene_name":"lamin B receptor","omim_gene":["600024"],"alias_name":["tudor domain containing 18"],"gene_symbol":"LBR","hgnc_symbol":"LBR","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:225589204-225616627","ensembl_id":"ENSG00000143815"}},"GRch38":{"90":{"location":"1:225401502-225428925","ensembl_id":"ENSG00000143815"}}},"hgnc_date_symbol_changed":"1995-04-27"},"entity_type":"gene","entity_name":"LBR","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","UKGTN","Expert list"],"phenotypes":["Skeletal Ciliopathies"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":150,"hash_id":"568ea01e22c1fc1c78b6715d","name":"Rare multisystem ciliopathy disorders","disease_group":"Ciliopathies","disease_sub_group":"Congenital malformations caused by ciliopathies","status":"public","version":"1.121","version_created":"2019-09-26T13:15:06.802957Z","relevant_disorders":["Joubert syndrome","Bardet-Biedl Syndrome"],"stats":{"number_of_genes":201,"number_of_strs":0,"number_of_regions":2},"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":["DHCR14B","TDRD18"],"biotype":"protein_coding","hgnc_id":"HGNC:6518","gene_name":"lamin B receptor","omim_gene":["600024"],"alias_name":["tudor domain containing 18"],"gene_symbol":"LBR","hgnc_symbol":"LBR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:225589204-225616627","ensembl_id":"ENSG00000143815"}},"GRch38":{"90":{"location":"1:225401502-225428925","ensembl_id":"ENSG00000143815"}}},"hgnc_date_symbol_changed":"1995-04-27"},"entity_type":"gene","entity_name":"LBR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21327084","12618959","29068549"],"evidence":["Expert Review Green","Expert list","UKGTN"],"phenotypes":["Skeletal Ciliopathies","Greenberg skeletal dysplasia, 215140"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":726,"hash_id":null,"name":"Skeletal ciliopathies","disease_group":"Ciliopathies","disease_sub_group":"Congenital malformations caused by ciliopathies","status":"public","version":"0.15","version_created":"2019-10-01T15:09:46.533258Z","relevant_disorders":[],"stats":{"number_of_genes":59,"number_of_strs":0,"number_of_regions":0},"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"}]}}]}
