{"count":10,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6715","gene_name":"latent transforming growth factor beta binding protein 2","omim_gene":["602091"],"alias_name":null,"gene_symbol":"LTBP2","hgnc_symbol":"LTBP2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"14:74964873-75079306","ensembl_id":"ENSG00000119681"}},"GRch38":{"90":{"location":"14:74498170-74612378","ensembl_id":"ENSG00000119681"}}},"hgnc_date_symbol_changed":"1995-05-11"},"entity_type":"gene","entity_name":"LTBP2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["19361779","21081970","20179738","19656777"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Primary Congenital Glaucoma","Glaucoma 3, primary congenital, D \t613086"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:6715","gene_name":"latent transforming growth factor beta binding protein 2","omim_gene":["602091"],"alias_name":null,"gene_symbol":"LTBP2","hgnc_symbol":"LTBP2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"14:74964873-75079306","ensembl_id":"ENSG00000119681"}},"GRch38":{"90":{"location":"14:74498170-74612378","ensembl_id":"ENSG00000119681"}}},"hgnc_date_symbol_changed":"1995-05-11"},"entity_type":"gene","entity_name":"LTBP2","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","UKGTN"],"phenotypes":[],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:6715","gene_name":"latent transforming growth factor beta binding protein 2","omim_gene":["602091"],"alias_name":null,"gene_symbol":"LTBP2","hgnc_symbol":"LTBP2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"14:74964873-75079306","ensembl_id":"ENSG00000119681"}},"GRch38":{"90":{"location":"14:74498170-74612378","ensembl_id":"ENSG00000119681"}}},"hgnc_date_symbol_changed":"1995-05-11"},"entity_type":"gene","entity_name":"LTBP2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen"],"phenotypes":["Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma \t251750"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":"553f979ebb5a1616e5ed45f6","name":"Corneal abnormalities","disease_group":"Ophthalmological disorders","disease_sub_group":"Anterior segment abnormalities","status":"public","version":"1.7","version_created":"2019-04-01T14:16:45.925824Z","relevant_disorders":["Corneal abnormalities","Corneal dystrophy"],"stats":{"number_of_genes":42,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6715","gene_name":"latent transforming growth factor beta binding protein 2","omim_gene":["602091"],"alias_name":null,"gene_symbol":"LTBP2","hgnc_symbol":"LTBP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:74964873-75079306","ensembl_id":"ENSG00000119681"}},"GRch38":{"90":{"location":"14:74498170-74612378","ensembl_id":"ENSG00000119681"}}},"hgnc_date_symbol_changed":"1995-05-11"},"entity_type":"gene","entity_name":"LTBP2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","South West GLH","South West GLH"],"phenotypes":["Marfan syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":700,"hash_id":null,"name":"Thoracic aortic aneurysm and dissection","disease_group":"","disease_sub_group":"","status":"public","version":"0.32","version_created":"2019-10-02T11:56:22.695639Z","relevant_disorders":["R125"],"stats":{"number_of_genes":62,"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:6715","gene_name":"latent transforming growth factor beta binding protein 2","omim_gene":["602091"],"alias_name":null,"gene_symbol":"LTBP2","hgnc_symbol":"LTBP2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"14:74964873-75079306","ensembl_id":"ENSG00000119681"}},"GRch38":{"90":{"location":"14:74498170-74612378","ensembl_id":"ENSG00000119681"}}},"hgnc_date_symbol_changed":"1995-05-11"},"entity_type":"gene","entity_name":"LTBP2","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["22539340","doi:10.​1007/​s12265-016-9673-5"],"evidence":["South West GLH","Literature"],"phenotypes":["Marfan syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":1,"hash_id":"5596735822c1fc4f7d26e96d","name":"Thoracic aortic aneurysm or dissection","disease_group":"Cardiovascular disorders","disease_sub_group":"Connective tissue disorders and aortopathies","status":"public","version":"1.103","version_created":"2019-10-02T10:51:03.815181Z","relevant_disorders":["Familial retinal arteriolar tortuosity","FTAAD","Familial Thoracic Aortic Aneurysm Disease"],"stats":{"number_of_genes":63,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6715","gene_name":"latent transforming growth factor beta binding protein 2","omim_gene":["602091"],"alias_name":null,"gene_symbol":"LTBP2","hgnc_symbol":"LTBP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:74964873-75079306","ensembl_id":"ENSG00000119681"}},"GRch38":{"90":{"location":"14:74498170-74612378","ensembl_id":"ENSG00000119681"}}},"hgnc_date_symbol_changed":"1995-05-11"},"entity_type":"gene","entity_name":"LTBP2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["22539340"],"evidence":["NHS GMS"],"phenotypes":["Weill-Marchesani"],"mode_of_inheritance":"","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:6715","gene_name":"latent transforming growth factor beta binding protein 2","omim_gene":["602091"],"alias_name":null,"gene_symbol":"LTBP2","hgnc_symbol":"LTBP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:74964873-75079306","ensembl_id":"ENSG00000119681"}},"GRch38":{"90":{"location":"14:74498170-74612378","ensembl_id":"ENSG00000119681"}}},"hgnc_date_symbol_changed":"1995-05-11"},"entity_type":"gene","entity_name":"LTBP2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","PAGE DD-Gene2Phenotype"],"phenotypes":["MICROSPHEROPHAKIA","PRIMARY CONGENITAL GLAUCOMA TYPE 3D"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:6715","gene_name":"latent transforming growth factor beta binding protein 2","omim_gene":["602091"],"alias_name":null,"gene_symbol":"LTBP2","hgnc_symbol":"LTBP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:74964873-75079306","ensembl_id":"ENSG00000119681"}},"GRch38":{"90":{"location":"14:74498170-74612378","ensembl_id":"ENSG00000119681"}}},"hgnc_date_symbol_changed":"1995-05-11"},"entity_type":"gene","entity_name":"LTBP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19656777","19361779"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["MICROSPHEROPHAKIA 251750","PRIMARY CONGENITAL GLAUCOMA TYPE 3D 613086"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:6715","gene_name":"latent transforming growth factor beta binding protein 2","omim_gene":["602091"],"alias_name":null,"gene_symbol":"LTBP2","hgnc_symbol":"LTBP2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"14:74964873-75079306","ensembl_id":"ENSG00000119681"}},"GRch38":{"90":{"location":"14:74498170-74612378","ensembl_id":"ENSG00000119681"}}},"hgnc_date_symbol_changed":"1995-05-11"},"entity_type":"gene","entity_name":"LTBP2","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Glaucoma 3, primary congenital, D, 613086","Microspherophakia","and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750","Weill-Marchesani syndrome 3, recessive, 614819"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:6715","gene_name":"latent transforming growth factor beta binding protein 2","omim_gene":["602091"],"alias_name":null,"gene_symbol":"LTBP2","hgnc_symbol":"LTBP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:74964873-75079306","ensembl_id":"ENSG00000119681"}},"GRch38":{"90":{"location":"14:74498170-74612378","ensembl_id":"ENSG00000119681"}}},"hgnc_date_symbol_changed":"1995-05-11"},"entity_type":"gene","entity_name":"LTBP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19656777","19361779","21081970","20179738"],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["Glaucoma 3, primary congenital, D 613086","Primary Congenital Glaucoma"],"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)"}]}}]}