{"count":6,"next":null,"previous":null,"results":[{"gene_data":{"alias":["FLJ30744"],"biotype":"protein_coding","hgnc_id":"HGNC:16517","gene_name":"transmembrane protease, serine 6","omim_gene":["609862"],"alias_name":["matriptase-2"],"gene_symbol":"TMPRSS6","hgnc_symbol":"TMPRSS6","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"22:37461476-37505603","ensembl_id":"ENSG00000187045"}},"GRch38":{"90":{"location":"22:37065436-37109563","ensembl_id":"ENSG00000187045"}}},"hgnc_date_symbol_changed":"2003-12-17"},"entity_type":"gene","entity_name":"TMPRSS6","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["18408718"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","UKGTN","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Iron-Refractory Iron Deficiency Anemia","Iron refractoryirondeficiencyanemia,206200"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":159,"hash_id":"58a70e858f62037e8779b2e8","name":"Cytopenias and congenital anaemias","disease_group":"Haematological disorders","disease_sub_group":"Anaemias and red cell disorders","status":"public","version":"1.73","version_created":"2019-09-23T11:25:32.403071Z","relevant_disorders":["Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria","Apparent aplastic anaemia or paroxysmal nocturnal haemoglobinuria","Congenital anaemias","Early onset pancytopenia and red cell disorders","Anaemias and red cell disorders","Cytopaenias and congenital anaemias","Cytopenia and pancytopenia"],"stats":{"number_of_genes":219,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["FLJ30744"],"biotype":"protein_coding","hgnc_id":"HGNC:16517","gene_name":"transmembrane protease, serine 6","omim_gene":["609862"],"alias_name":["matriptase-2"],"gene_symbol":"TMPRSS6","hgnc_symbol":"TMPRSS6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:37461476-37505603","ensembl_id":"ENSG00000187045"}},"GRch38":{"90":{"location":"22:37065436-37109563","ensembl_id":"ENSG00000187045"}}},"hgnc_date_symbol_changed":"2003-12-17"},"entity_type":"gene","entity_name":"TMPRSS6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18408718"],"evidence":["Expert Review Green","North West GLH","Yorkshire and North East GLH","NHS GMS","Wessex and West Midlands GLH"],"phenotypes":["Iron-Refractory Iron Deficiency Anemia","206200 Iron refractoryirondeficiencyanemia","Iron refractoryirondeficiencyanemia,206200"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":518,"hash_id":null,"name":"Rare anaemia","disease_group":"","disease_sub_group":"","status":"public","version":"1.0","version_created":"2019-09-23T14:44:13.433190Z","relevant_disorders":["R92"],"stats":{"number_of_genes":94,"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":"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":["FLJ30744"],"biotype":"protein_coding","hgnc_id":"HGNC:16517","gene_name":"transmembrane protease, serine 6","omim_gene":["609862"],"alias_name":["matriptase-2"],"gene_symbol":"TMPRSS6","hgnc_symbol":"TMPRSS6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:37461476-37505603","ensembl_id":"ENSG00000187045"}},"GRch38":{"90":{"location":"22:37065436-37109563","ensembl_id":"ENSG00000187045"}}},"hgnc_date_symbol_changed":"2003-12-17"},"entity_type":"gene","entity_name":"TMPRSS6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19357398","18408718"],"evidence":["North West GLH","Yorkshire and North East GLH","London South GLH","NHS GMS","Expert Review Green","Wessex and West Midlands GLH"],"phenotypes":["206200 Iron-refractory iron deficiency anemia","IRIDA","206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":515,"hash_id":null,"name":"Iron metabolism disorders","disease_group":"","disease_sub_group":"","status":"public","version":"1.1","version_created":"2019-09-23T14:47:26.293257Z","relevant_disorders":["R96"],"stats":{"number_of_genes":26,"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":"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":["FLJ30744"],"biotype":"protein_coding","hgnc_id":"HGNC:16517","gene_name":"transmembrane protease, serine 6","omim_gene":["609862"],"alias_name":["matriptase-2"],"gene_symbol":"TMPRSS6","hgnc_symbol":"TMPRSS6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:37461476-37505603","ensembl_id":"ENSG00000187045"}},"GRch38":{"90":{"location":"22:37065436-37109563","ensembl_id":"ENSG00000187045"}}},"hgnc_date_symbol_changed":"2003-12-17"},"entity_type":"gene","entity_name":"TMPRSS6","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","PAGE DD-Gene2Phenotype"],"phenotypes":["IRON-REFRACTORY IRON DEFICIENCY ANEMIA"],"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":["FLJ30744"],"biotype":"protein_coding","hgnc_id":"HGNC:16517","gene_name":"transmembrane protease, serine 6","omim_gene":["609862"],"alias_name":["matriptase-2"],"gene_symbol":"TMPRSS6","hgnc_symbol":"TMPRSS6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:37461476-37505603","ensembl_id":"ENSG00000187045"}},"GRch38":{"90":{"location":"22:37065436-37109563","ensembl_id":"ENSG00000187045"}}},"hgnc_date_symbol_changed":"2003-12-17"},"entity_type":"gene","entity_name":"TMPRSS6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19592582","19357398","18596229","18408718"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["IRON-REFRACTORY IRON DEFICIENCY ANEMIA 206200"],"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":["FLJ30744"],"biotype":"protein_coding","hgnc_id":"HGNC:16517","gene_name":"transmembrane protease, serine 6","omim_gene":["609862"],"alias_name":["matriptase-2"],"gene_symbol":"TMPRSS6","hgnc_symbol":"TMPRSS6","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"22:37461476-37505603","ensembl_id":"ENSG00000187045"}},"GRch38":{"90":{"location":"22:37065436-37109563","ensembl_id":"ENSG00000187045"}}},"hgnc_date_symbol_changed":"2003-12-17"},"entity_type":"gene","entity_name":"TMPRSS6","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Iron-refractory iron deficiency anemia, 206200"],"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"}]}}]}
