{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11274","gene_name":"spectrin beta, erythrocytic","omim_gene":["182870"],"alias_name":["spherocytosis, clinical type I"],"gene_symbol":"SPTB","hgnc_symbol":"SPTB","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"14:65213002-65346601","ensembl_id":"ENSG00000070182"}},"GRch38":{"90":{"location":"14:64746283-64879883","ensembl_id":"ENSG00000070182"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"SPTB","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27906107,11703334,8102379, 27906107,11703334,19538529, 2056132, 1391962, 9163587"],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen","BRIDGE consortium (NIHRBR-RD)"],"phenotypes":["RBC membrane abnormality","Elliptocytosis","Spherocytosis,616649","Anemia, neonatal hemolytic, fatal and near-fatal"],"mode_of_inheritance":"BOTH monoallelic and 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":[],"biotype":"protein_coding","hgnc_id":"HGNC:11274","gene_name":"spectrin beta, erythrocytic","omim_gene":["182870"],"alias_name":["spherocytosis, clinical type I"],"gene_symbol":"SPTB","hgnc_symbol":"SPTB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:65213002-65346601","ensembl_id":"ENSG00000070182"}},"GRch38":{"90":{"location":"14:64746283-64879883","ensembl_id":"ENSG00000070182"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"SPTB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["3276733","8226774"],"evidence":["North West GLH","Yorkshire and North East GLH","London South GLH","NHS GMS","Expert Review Green","Wessex and West Midlands GLH"],"phenotypes":["Spherocytosis,616649","Elliptocytosis","Anemia, neonatal hemolytic, fatal and near-fatal","RBC membrane abnormality","617948 Elliptocytosis-3","616649 Spherocytosis, type 2","616649 Anemia, neonatal hemolytic, fatal and near-fatal"],"mode_of_inheritance":"BOTH monoallelic and 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."}]}}]}