{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":["EL2"],"biotype":"protein_coding","hgnc_id":"HGNC:11272","gene_name":"spectrin alpha, erythrocytic 1","omim_gene":["182860"],"alias_name":["elliptocytosis 2"],"gene_symbol":"SPTA1","hgnc_symbol":"SPTA1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:158580496-158656488","ensembl_id":"ENSG00000163554"}},"GRch38":{"90":{"location":"1:158610706-158686698","ensembl_id":"ENSG00000163554"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"SPTA1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["2567189","1353056","2794061","3597773","1541680","8226774","16150946","3785322","8941647"],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen","BRIDGE consortium (NIHRBR-RD)"],"phenotypes":["RBC membrane abnormality","Elliptocytosis-2 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 130600","Pyropoikilocytosis (BIALLELIC, autosomal or pseudoautosomal), 266140","Spherocytosis, type 3  (BIALLELIC, autosomal or pseudoautosomal), 270970"],"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":["EL2"],"biotype":"protein_coding","hgnc_id":"HGNC:11272","gene_name":"spectrin alpha, erythrocytic 1","omim_gene":["182860"],"alias_name":["elliptocytosis 2"],"gene_symbol":"SPTA1","hgnc_symbol":"SPTA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:158580496-158656488","ensembl_id":"ENSG00000163554"}},"GRch38":{"90":{"location":"1:158610706-158686698","ensembl_id":"ENSG00000163554"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"SPTA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["3940543","4077050","1679439"],"evidence":["North West GLH","Yorkshire and North East GLH","London South GLH","NHS GMS","Expert Review Green","Wessex and West Midlands GLH"],"phenotypes":["Elliptocytosis-2 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 130600","266140 Pyropoikilocytosis, 270970 Spherocytosis, type 3","Spherocytosis, type 3 (BIALLELIC, autosomal or pseudoautosomal), 270970","270970 Spherocytosis, type 3","130600 Elliptocytosis-2","RBC membrane abnormality","266140 Pyropoikilocytosis","Pyropoikilocytosis (BIALLELIC, autosomal or pseudoautosomal), 266140"],"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."}]}}]}