{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":["PA","MGC116735","MGC116737"],"biotype":"protein_coding","hgnc_id":"HGNC:3381","gene_name":"erythrocyte membrane protein band 4.2","omim_gene":["177070"],"alias_name":["Erythrocyte surface protein band 4.2"],"gene_symbol":"EPB42","hgnc_symbol":"EPB42","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:43398423-43513481","ensembl_id":"ENSG00000166947"}},"GRch38":{"90":{"location":"15:43106225-43221283","ensembl_id":"ENSG00000166947"}}},"hgnc_date_symbol_changed":"1991-05-21"},"entity_type":"gene","entity_name":"EPB42","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["15071790","1558976","7803799","2386772","7772513"],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen","BRIDGE consortium (NIHRBR-RD)"],"phenotypes":["RBC membrane abnormality","Elliptocytosis","Spherocytosis, type 5, 612690","Hereditary spherocytosis type 5","Minkowski-Chauffard disease","Spherocytosis, Recessive","EPB42-related hereditary spherocytosis"],"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":["PA","MGC116735","MGC116737"],"biotype":"protein_coding","hgnc_id":"HGNC:3381","gene_name":"erythrocyte membrane protein band 4.2","omim_gene":["177070"],"alias_name":["Erythrocyte surface protein band 4.2"],"gene_symbol":"EPB42","hgnc_symbol":"EPB42","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:43398423-43513481","ensembl_id":"ENSG00000166947"}},"GRch38":{"90":{"location":"15:43106225-43221283","ensembl_id":"ENSG00000166947"}}},"hgnc_date_symbol_changed":"1991-05-21"},"entity_type":"gene","entity_name":"EPB42","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12176912","7772513","1558976"],"evidence":["North West GLH","Yorkshire and North East GLH","London South GLH","NHS GMS","Expert Review Green","Wessex and West Midlands GLH"],"phenotypes":["Spherocytosis, type 5, 612690","EPB42-related hereditary spherocytosis","612690 Spherocytosis, type 5","Spherocytosis, Recessive","Elliptocytosis","Minkowski-Chauffard disease","RBC membrane abnormality","Hereditary spherocytosis type 5","612690 Hereditary spherocytosis type 5"],"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."}]}}]}