{"count":14,"next":null,"previous":null,"results":[{"gene_data":{"alias":["LR3","BMND1","HBM","OPS","OPTA1","VBCH2","EVR4"],"biotype":"protein_coding","hgnc_id":"HGNC:6697","gene_name":"LDL receptor related protein 5","omim_gene":["603506"],"alias_name":null,"gene_symbol":"LRP5","hgnc_symbol":"LRP5","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:68080077-68216743","ensembl_id":"ENSG00000162337"}},"GRch38":{"90":{"location":"11:68312609-68449275","ensembl_id":"ENSG00000162337"}}},"hgnc_date_symbol_changed":"1998-04-07"},"entity_type":"gene","entity_name":"LRP5","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Emory Genetics Laboratory"],"phenotypes":["Eye Disorders"],"mode_of_inheritance":"","tags":[],"panel":{"id":249,"hash_id":"55507b25bb5a161bf644a3b2","name":"Glaucoma (developmental)","disease_group":"Ophthalmological disorders","disease_sub_group":"Anterior segment abnormalities","status":"public","version":"1.5","version_created":"2019-06-20T15:15:07.662717Z","relevant_disorders":[],"stats":{"number_of_genes":224,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["LR3","BMND1","HBM","OPS","OPTA1","VBCH2","EVR4"],"biotype":"protein_coding","hgnc_id":"HGNC:6697","gene_name":"LDL receptor related protein 5","omim_gene":["603506"],"alias_name":null,"gene_symbol":"LRP5","hgnc_symbol":"LRP5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:68080077-68216743","ensembl_id":"ENSG00000162337"}},"GRch38":{"90":{"location":"11:68312609-68449275","ensembl_id":"ENSG00000162337"}}},"hgnc_date_symbol_changed":"1998-04-07"},"entity_type":"gene","entity_name":"LRP5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"Other","publications":["30309679"],"evidence":["Expert Review Red"],"phenotypes":["short qt"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":468,"hash_id":null,"name":"Cardiac arrhythmias","disease_group":"","disease_sub_group":"","status":"public","version":"1.2","version_created":"2019-06-20T15:14:56.920397Z","relevant_disorders":["Cardiac arrythmias"],"stats":{"number_of_genes":43,"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":["LR3","BMND1","HBM","OPS","OPTA1","VBCH2","EVR4"],"biotype":"protein_coding","hgnc_id":"HGNC:6697","gene_name":"LDL receptor related protein 5","omim_gene":["603506"],"alias_name":null,"gene_symbol":"LRP5","hgnc_symbol":"LRP5","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:68080077-68216743","ensembl_id":"ENSG00000162337"}},"GRch38":{"90":{"location":"11:68312609-68449275","ensembl_id":"ENSG00000162337"}}},"hgnc_date_symbol_changed":"1998-04-07"},"entity_type":"gene","entity_name":"LRP5","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","UKGTN"],"phenotypes":["Osteoporosis-pseudoglioma syndrome","Exudative vitreoretinopathy 4"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":230,"hash_id":"553f979fbb5a1616e5ed45f8","name":"Cataracts","disease_group":"Ophthalmological disorders","disease_sub_group":"Anterior segment abnormalities","status":"public","version":"2.0","version_created":"2019-10-02T14:52:22.701027Z","relevant_disorders":["R31"],"stats":{"number_of_genes":172,"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."},{"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":["LR3","BMND1","HBM","OPS","OPTA1","VBCH2","EVR4"],"biotype":"protein_coding","hgnc_id":"HGNC:6697","gene_name":"LDL receptor related protein 5","omim_gene":["603506"],"alias_name":null,"gene_symbol":"LRP5","hgnc_symbol":"LRP5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:68080077-68216743","ensembl_id":"ENSG00000162337"}},"GRch38":{"90":{"location":"11:68312609-68449275","ensembl_id":"ENSG00000162337"}}},"hgnc_date_symbol_changed":"1998-04-07"},"entity_type":"gene","entity_name":"LRP5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25920554"],"evidence":["NHS GMS","Expert Review Green","Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen","UKGTN"],"phenotypes":["Polycystic liver disease 4 with or without kidney cysts (617875)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":209,"hash_id":"58c8066b8f6203413360f1cf","name":"Ductal plate malformation","disease_group":"","disease_sub_group":"","status":"public","version":"1.10","version_created":"2019-06-20T15:10:58.988548Z","relevant_disorders":["Ductal plate malformation (DPM)","Polycystic liver disease"],"stats":{"number_of_genes":150,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["LR3","BMND1","HBM","OPS","OPTA1","VBCH2","EVR4"],"biotype":"protein_coding","hgnc_id":"HGNC:6697","gene_name":"LDL receptor related protein 5","omim_gene":["603506"],"alias_name":null,"gene_symbol":"LRP5","hgnc_symbol":"LRP5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:68080077-68216743","ensembl_id":"ENSG00000162337"}},"GRch38":{"90":{"location":"11:68312609-68449275","ensembl_id":"ENSG00000162337"}}},"hgnc_date_symbol_changed":"1998-04-07"},"entity_type":"gene","entity_name":"LRP5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25920554"],"evidence":["Expert Review Green","NHS GMS","NHS GMS","Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen","UKGTN"],"phenotypes":["Polycystic liver disease 4 with or without kidney cysts (617875)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":653,"hash_id":null,"name":"Polycystic liver disease interim","disease_group":"","disease_sub_group":"","status":"public","version":"0.8","version_created":"2019-09-06T07:26:59.856722Z","relevant_disorders":["R173"],"stats":{"number_of_genes":20,"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)"}]}},{"gene_data":{"alias":["LR3","BMND1","HBM","OPS","OPTA1","VBCH2","EVR4"],"biotype":"protein_coding","hgnc_id":"HGNC:6697","gene_name":"LDL receptor related protein 5","omim_gene":["603506"],"alias_name":null,"gene_symbol":"LRP5","hgnc_symbol":"LRP5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:68080077-68216743","ensembl_id":"ENSG00000162337"}},"GRch38":{"90":{"location":"11:68312609-68449275","ensembl_id":"ENSG00000162337"}}},"hgnc_date_symbol_changed":"1998-04-07"},"entity_type":"gene","entity_name":"LRP5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"Other","publications":["30309679"],"evidence":["Expert Review Red","Literature"],"phenotypes":["short qt"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":224,"hash_id":"58c7f6858f620328d77ce711","name":"Short QT syndrome","disease_group":"","disease_sub_group":"","status":"public","version":"1.23","version_created":"2019-09-30T12:24:45.336900Z","relevant_disorders":["R130"],"stats":{"number_of_genes":40,"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)"}]}},{"gene_data":{"alias":["LR3","BMND1","HBM","OPS","OPTA1","VBCH2","EVR4"],"biotype":"protein_coding","hgnc_id":"HGNC:6697","gene_name":"LDL receptor related protein 5","omim_gene":["603506"],"alias_name":null,"gene_symbol":"LRP5","hgnc_symbol":"LRP5","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:68080077-68216743","ensembl_id":"ENSG00000162337"}},"GRch38":{"90":{"location":"11:68312609-68449275","ensembl_id":"ENSG00000162337"}}},"hgnc_date_symbol_changed":"1998-04-07"},"entity_type":"gene","entity_name":"LRP5","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","","Expert Review Green","Emory Genetics Laboratory","Expert"],"phenotypes":["Exudative vitreoretinopathy 4 601813","[Bone mineral density variability 1] 601884","Osteopetrosis, autosomal dominant 1 607634","Osteosclerosis 144750","van Buchem disease, type 2 607636","Osteoporosis-pseudoglioma syndrome 259770","Hyperostosis, endosteal 144750","{Osteoporosis} 166710"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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":["LR3","BMND1","HBM","OPS","OPTA1","VBCH2","EVR4"],"biotype":"protein_coding","hgnc_id":"HGNC:6697","gene_name":"LDL receptor related protein 5","omim_gene":["603506"],"alias_name":null,"gene_symbol":"LRP5","hgnc_symbol":"LRP5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:68080077-68216743","ensembl_id":"ENSG00000162337"}},"GRch38":{"90":{"location":"11:68312609-68449275","ensembl_id":"ENSG00000162337"}}},"hgnc_date_symbol_changed":"1998-04-07"},"entity_type":"gene","entity_name":"LRP5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["PAGE DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["VITREORETINOPATHY EXUDATIVE TYPE 4","OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME","ENDOSTEAL HYPEROSTOSIS WORTH TYPE","OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1","HIGH BONE MASS TRAIT"],"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":["LR3","BMND1","HBM","OPS","OPTA1","VBCH2","EVR4"],"biotype":"protein_coding","hgnc_id":"HGNC:6697","gene_name":"LDL receptor related protein 5","omim_gene":["603506"],"alias_name":null,"gene_symbol":"LRP5","hgnc_symbol":"LRP5","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:68080077-68216743","ensembl_id":"ENSG00000162337"}},"GRch38":{"90":{"location":"11:68312609-68449275","ensembl_id":"ENSG00000162337"}}},"hgnc_date_symbol_changed":"1998-04-07"},"entity_type":"gene","entity_name":"LRP5","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Red","Expert list"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":168,"hash_id":"55b605f722c1fc05fd2345af","name":"Craniosynostosis","disease_group":"Skeletal disorders","disease_sub_group":"Craniosynostosis syndromes","status":"public","version":"2.0","version_created":"2019-09-17T13:00:09.542482Z","relevant_disorders":["Craniosynostosis syndromes","Craniosynostosis syndromes phenotypes","Rare syndromic craniosynostosis or isolated multisuture synostosis","R100"],"stats":{"number_of_genes":114,"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":"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":["LR3","BMND1","HBM","OPS","OPTA1","VBCH2","EVR4"],"biotype":"protein_coding","hgnc_id":"HGNC:6697","gene_name":"LDL receptor related protein 5","omim_gene":["603506"],"alias_name":null,"gene_symbol":"LRP5","hgnc_symbol":"LRP5","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:68080077-68216743","ensembl_id":"ENSG00000162337"}},"GRch38":{"90":{"location":"11:68312609-68449275","ensembl_id":"ENSG00000162337"}}},"hgnc_date_symbol_changed":"1998-04-07"},"entity_type":"gene","entity_name":"LRP5","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green","Emory Genetics Laboratory","Expert"],"phenotypes":["Osteogenesis Imperfecta and Decreased Bone Density","skeletal dysplasias"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":196,"hash_id":"55896ed2bb5a1671a7fef4f9","name":"Osteogenesis imperfecta","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","status":"public","version":"2.0","version_created":"2019-09-04T11:35:54.595856Z","relevant_disorders":["Osteogenesis Imperfecta","R102"],"stats":{"number_of_genes":184,"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":["LR3","BMND1","HBM","OPS","OPTA1","VBCH2","EVR4"],"biotype":"protein_coding","hgnc_id":"HGNC:6697","gene_name":"LDL receptor related protein 5","omim_gene":["603506"],"alias_name":null,"gene_symbol":"LRP5","hgnc_symbol":"LRP5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:68080077-68216743","ensembl_id":"ENSG00000162337"}},"GRch38":{"90":{"location":"11:68312609-68449275","ensembl_id":"ENSG00000162337"}}},"hgnc_date_symbol_changed":"1998-04-07"},"entity_type":"gene","entity_name":"LRP5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20034086","11719191"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["VITREORETINOPATHY EXUDATIVE TYPE 4 601813","OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME 259770","HIGH BONE MASS TRAIT 601884","OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1 607634","ENDOSTEAL HYPEROSTOSIS WORTH TYPE 144750"],"mode_of_inheritance":"BOTH monoallelic and 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":["LR3","BMND1","HBM","OPS","OPTA1","VBCH2","EVR4"],"biotype":"protein_coding","hgnc_id":"HGNC:6697","gene_name":"LDL receptor related protein 5","omim_gene":["603506"],"alias_name":null,"gene_symbol":"LRP5","hgnc_symbol":"LRP5","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:68080077-68216743","ensembl_id":"ENSG00000162337"}},"GRch38":{"90":{"location":"11:68312609-68449275","ensembl_id":"ENSG00000162337"}}},"hgnc_date_symbol_changed":"1998-04-07"},"entity_type":"gene","entity_name":"LRP5","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Osteoporosis-pseudoglioma syndrome, 259770"],"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":["LR3","BMND1","HBM","OPS","OPTA1","VBCH2","EVR4"],"biotype":"protein_coding","hgnc_id":"HGNC:6697","gene_name":"LDL receptor related protein 5","omim_gene":["603506"],"alias_name":null,"gene_symbol":"LRP5","hgnc_symbol":"LRP5","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:68080077-68216743","ensembl_id":"ENSG00000162337"}},"GRch38":{"90":{"location":"11:68312609-68449275","ensembl_id":"ENSG00000162337"}}},"hgnc_date_symbol_changed":"1998-04-07"},"entity_type":"gene","entity_name":"LRP5","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["Eye Disorders","Exudative vitreoretinopathy 4"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":307,"hash_id":"56e0238b22c1fc09c97a6e46","name":"Retinal disorders","disease_group":"Ophthalmological disorders","disease_sub_group":"Posterior segment abnormalities","status":"public","version":"1.199","version_created":"2019-10-08T09:22:18.436205Z","relevant_disorders":["Posterior segment abnormalities","Cone Dysfunction Syndrome","Developmental macular and foveal dystrophy","Inherited macular dystrophy","Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy","Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy","Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy","Rod Dysfunction Syndrome","Rod-cone dystrophy","Familial exudative vitreoretinopathy","Familial exudative retinopathy","R32","R33","R34","R35"],"stats":{"number_of_genes":320,"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":["LR3","BMND1","HBM","OPS","OPTA1","VBCH2","EVR4"],"biotype":"protein_coding","hgnc_id":"HGNC:6697","gene_name":"LDL receptor related protein 5","omim_gene":["603506"],"alias_name":null,"gene_symbol":"LRP5","hgnc_symbol":"LRP5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:68080077-68216743","ensembl_id":"ENSG00000162337"}},"GRch38":{"90":{"location":"11:68312609-68449275","ensembl_id":"ENSG00000162337"}}},"hgnc_date_symbol_changed":"1998-04-07"},"entity_type":"gene","entity_name":"LRP5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29131652, 28111184, 20034086"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Osteopetrosis, autosomal dominant 1, 607634","Osteoporosis-pseudoglioma syndrome, 259770","van Buchem disease, type 2","Exudative vitreoretinopathy 4, 601813","Eye Disorders"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":509,"hash_id":null,"name":"Structural eye disease","disease_group":"","disease_sub_group":"","status":"public","version":"0.93","version_created":"2019-10-09T13:18:12.923145Z","relevant_disorders":["R36"],"stats":{"number_of_genes":456,"number_of_strs":0,"number_of_regions":2},"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)"}]}}]}
