{"count":8,"next":null,"previous":null,"results":[{"gene_data":{"alias":["iGNT","iGAT","iGnT","BETA3GNTI","B3GN-T1"],"biotype":"protein_coding","hgnc_id":"HGNC:15685","gene_name":"beta-1,4-glucuronyltransferase 1","omim_gene":["605517"],"alias_name":["N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase"],"gene_symbol":"B4GAT1","hgnc_symbol":"B4GAT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:66112843-66115163","ensembl_id":"ENSG00000174684"}},"GRch38":{"90":{"location":"11:66345372-66347692","ensembl_id":"ENSG00000174684"}}},"hgnc_date_symbol_changed":"2014-12-17"},"entity_type":"gene","entity_name":"B4GAT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23877401 - both publications refer to the gene as B3GNT1 but provide NM_006876.2 as the reference which corresponds to the new gene symbol B4GAT1","23359570"],"evidence":["Expert Review Green"],"phenotypes":["Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA, 13, 615287"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":465,"hash_id":null,"name":"Neuromuscular disorders","disease_group":"","disease_sub_group":"","status":"public","version":"1.11","version_created":"2019-10-09T12:42:27.875560Z","relevant_disorders":["Other rare neuromuscular disorders; R381"],"stats":{"number_of_genes":245,"number_of_strs":2,"number_of_regions":5},"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":["iGNT","iGAT","iGnT","BETA3GNTI","B3GN-T1"],"biotype":"protein_coding","hgnc_id":"HGNC:15685","gene_name":"beta-1,4-glucuronyltransferase 1","omim_gene":["605517"],"alias_name":["N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase"],"gene_symbol":"B4GAT1","hgnc_symbol":"B4GAT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:66112843-66115163","ensembl_id":"ENSG00000174684"}},"GRch38":{"90":{"location":"11:66345372-66347692","ensembl_id":"ENSG00000174684"}}},"hgnc_date_symbol_changed":"2014-12-17"},"entity_type":"gene","entity_name":"B4GAT1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["23359570"],"evidence":["Expert Review Amber"],"phenotypes":["Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13,  615287","Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA, 13, 615287"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":477,"hash_id":null,"name":"Ataxia and cerebellar anomalies - narrow panel","disease_group":"","disease_sub_group":"","status":"public","version":"1.7","version_created":"2019-09-20T16:56:48.672242Z","relevant_disorders":[],"stats":{"number_of_genes":199,"number_of_strs":13,"number_of_regions":3},"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":["iGNT","iGAT","iGnT","BETA3GNTI","B3GN-T1"],"biotype":"protein_coding","hgnc_id":"HGNC:15685","gene_name":"beta-1,4-glucuronyltransferase 1","omim_gene":["605517"],"alias_name":["N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase"],"gene_symbol":"B4GAT1","hgnc_symbol":"B4GAT1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:66112843-66115163","ensembl_id":"ENSG00000174684"}},"GRch38":{"90":{"location":"11:66345372-66347692","ensembl_id":"ENSG00000174684"}}},"hgnc_date_symbol_changed":"2014-12-17"},"entity_type":"gene","entity_name":"B4GAT1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Other"],"phenotypes":["Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13"],"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":["iGNT","iGAT","iGnT","BETA3GNTI","B3GN-T1"],"biotype":"protein_coding","hgnc_id":"HGNC:15685","gene_name":"beta-1,4-glucuronyltransferase 1","omim_gene":["605517"],"alias_name":["N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase"],"gene_symbol":"B4GAT1","hgnc_symbol":"B4GAT1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:66112843-66115163","ensembl_id":"ENSG00000174684"}},"GRch38":{"90":{"location":"11:66345372-66347692","ensembl_id":"ENSG00000174684"}}},"hgnc_date_symbol_changed":"2014-12-17"},"entity_type":"gene","entity_name":"B4GAT1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["23359570"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13  615287"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":96,"hash_id":"568f8ba422c1fc1c79ca1774","name":"Malformations of cortical development","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neurodevelopmental disorders","status":"public","version":"1.171","version_created":"2019-08-12T12:05:00.638492Z","relevant_disorders":[],"stats":{"number_of_genes":74,"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","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":["iGNT","iGAT","iGnT","BETA3GNTI","B3GN-T1"],"biotype":"protein_coding","hgnc_id":"HGNC:15685","gene_name":"beta-1,4-glucuronyltransferase 1","omim_gene":["605517"],"alias_name":["N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase"],"gene_symbol":"B4GAT1","hgnc_symbol":"B4GAT1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:66112843-66115163","ensembl_id":"ENSG00000174684"}},"GRch38":{"90":{"location":"11:66345372-66347692","ensembl_id":"ENSG00000174684"}}},"hgnc_date_symbol_changed":"2014-12-17"},"entity_type":"gene","entity_name":"B4GAT1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["23877401","23359570"],"evidence":["NHS GMS","London South GLH","Expert Review Green","","Radboud University Medical Center, Nijmegen"],"phenotypes":["Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA, 13, 615287"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":207,"hash_id":"55b117c022c1fc7dd7ce411c","name":"Congenital muscular dystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neuromuscular disorders","status":"public","version":"1.62","version_created":"2019-10-09T12:19:40.245789Z","relevant_disorders":[],"stats":{"number_of_genes":53,"number_of_strs":1,"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":["iGNT","iGAT","iGnT","BETA3GNTI","B3GN-T1"],"biotype":"protein_coding","hgnc_id":"HGNC:15685","gene_name":"beta-1,4-glucuronyltransferase 1","omim_gene":["605517"],"alias_name":["N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase"],"gene_symbol":"B4GAT1","hgnc_symbol":"B4GAT1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:66112843-66115163","ensembl_id":"ENSG00000174684"}},"GRch38":{"90":{"location":"11:66345372-66347692","ensembl_id":"ENSG00000174684"}}},"hgnc_date_symbol_changed":"2014-12-17"},"entity_type":"gene","entity_name":"B4GAT1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen",""],"phenotypes":["Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA, 13, 615287"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":258,"hash_id":"55b75d5b22c1fc05fd2345c9","name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neuromuscular disorders","status":"public","version":"2.45","version_created":"2019-10-07T10:19:07.721001Z","relevant_disorders":["Arthrogrythsis"],"stats":{"number_of_genes":246,"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":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["iGNT","iGAT","iGnT","BETA3GNTI","B3GN-T1"],"biotype":"protein_coding","hgnc_id":"HGNC:15685","gene_name":"beta-1,4-glucuronyltransferase 1","omim_gene":["605517"],"alias_name":["N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase"],"gene_symbol":"B4GAT1","hgnc_symbol":"B4GAT1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:66112843-66115163","ensembl_id":"ENSG00000174684"}},"GRch38":{"90":{"location":"11:66345372-66347692","ensembl_id":"ENSG00000174684"}}},"hgnc_date_symbol_changed":"2014-12-17"},"entity_type":"gene","entity_name":"B4GAT1","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":["23359570"],"evidence":["Radboud University Medical Center, Nijmegen","UKGTN","Literature"],"phenotypes":["Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13,  615287","Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA, 13, 615287"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":286,"hash_id":"568f871422c1fc1c79ca176d","name":"Cerebellar hypoplasia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor Disorders of the CNS","status":"public","version":"1.39","version_created":"2019-10-07T10:30:38.401018Z","relevant_disorders":["Cerebellar Hypoplasia","Pontine tegmental cap dysplasia"],"stats":{"number_of_genes":66,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["iGNT","iGAT","iGnT","BETA3GNTI","B3GN-T1"],"biotype":"protein_coding","hgnc_id":"HGNC:15685","gene_name":"beta-1,4-glucuronyltransferase 1","omim_gene":["605517"],"alias_name":["N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase"],"gene_symbol":"B4GAT1","hgnc_symbol":"B4GAT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:66112843-66115163","ensembl_id":"ENSG00000174684"}},"GRch38":{"90":{"location":"11:66345372-66347692","ensembl_id":"ENSG00000174684"}}},"hgnc_date_symbol_changed":"2014-12-17"},"entity_type":"gene","entity_name":"B4GAT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","NHS GMS","Wessex and West Midlands GLH"],"phenotypes":["Muscular dystrophy-dystroglycanopathy type A13, 615287"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":466,"hash_id":null,"name":"Hereditary ataxia - adult onset","disease_group":"","disease_sub_group":"","status":"public","version":"1.211","version_created":"2019-09-20T14:18:40.957460Z","relevant_disorders":["Hereditary ataxia with onset in adulthood","R54"],"stats":{"number_of_genes":236,"number_of_strs":13,"number_of_regions":4},"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."}]}}]}
