{"count":10,"next":null,"previous":null,"results":[{"gene_data":{"alias":["ERYF1","NFE1","GATA-1","NF-E1"],"biotype":"protein_coding","hgnc_id":"HGNC:4170","gene_name":"GATA binding protein 1","omim_gene":["305371"],"alias_name":["nuclear factor, erythroid 1"],"gene_symbol":"GATA1","hgnc_symbol":"GATA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:48644962-48652716","ensembl_id":"ENSG00000102145"}},"GRch38":{"90":{"location":"X:48786554-48794311","ensembl_id":"ENSG00000102145"}}},"hgnc_date_symbol_changed":"1990-09-10"},"entity_type":"gene","entity_name":"GATA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28297620"],"evidence":["Expert Review Green","Curated sources"],"phenotypes":["Class: BM failure syndrome (typ AR)","Diamond Blackfan Anemia","MDS, AML","Osteosarcoma, soft tissue sarcomas"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":407,"hash_id":null,"name":"Haematological malignancies for rare disease","disease_group":"Tumour syndromes","disease_sub_group":"Tumour syndromes","status":"public","version":"1.1","version_created":"2019-06-20T15:11:49.421852Z","relevant_disorders":[],"stats":{"number_of_genes":89,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["ERYF1","NFE1","GATA-1","NF-E1"],"biotype":"protein_coding","hgnc_id":"HGNC:4170","gene_name":"GATA binding protein 1","omim_gene":["305371"],"alias_name":["nuclear factor, erythroid 1"],"gene_symbol":"GATA1","hgnc_symbol":"GATA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:48644962-48652716","ensembl_id":"ENSG00000102145"}},"GRch38":{"90":{"location":"X:48786554-48794311","ensembl_id":"ENSG00000102145"}}},"hgnc_date_symbol_changed":"1990-09-10"},"entity_type":"gene","entity_name":"GATA1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["25251786","17148589"],"evidence":["Expert Review Amber","NHS GMS"],"phenotypes":["Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367","Congenital erythropoietic porphyria"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":["watchlist"],"panel":{"id":513,"hash_id":null,"name":"Non-acute porphyrias","disease_group":"","disease_sub_group":"","status":"public","version":"1.0","version_created":"2019-09-04T09:22:03.355850Z","relevant_disorders":["R168"],"stats":{"number_of_genes":9,"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":["ERYF1","NFE1","GATA-1","NF-E1"],"biotype":"protein_coding","hgnc_id":"HGNC:4170","gene_name":"GATA binding protein 1","omim_gene":["305371"],"alias_name":["nuclear factor, erythroid 1"],"gene_symbol":"GATA1","hgnc_symbol":"GATA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:48644962-48652716","ensembl_id":"ENSG00000102145"}},"GRch38":{"90":{"location":"X:48786554-48794311","ensembl_id":"ENSG00000102145"}}},"hgnc_date_symbol_changed":"1990-09-10"},"entity_type":"gene","entity_name":"GATA1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Radial Ray abnormality"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":384,"hash_id":null,"name":"Limb disorders","disease_group":"","disease_sub_group":"","status":"public","version":"1.61","version_created":"2019-10-03T10:01:34.398179Z","relevant_disorders":[],"stats":{"number_of_genes":234,"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 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":["ERYF1","NFE1","GATA-1","NF-E1"],"biotype":"protein_coding","hgnc_id":"HGNC:4170","gene_name":"GATA binding protein 1","omim_gene":["305371"],"alias_name":["nuclear factor, erythroid 1"],"gene_symbol":"GATA1","hgnc_symbol":"GATA1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:48644962-48652716","ensembl_id":"ENSG00000102145"}},"GRch38":{"90":{"location":"X:48786554-48794311","ensembl_id":"ENSG00000102145"}}},"hgnc_date_symbol_changed":"1990-09-10"},"entity_type":"gene","entity_name":"GATA1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BRIDGE Study Tier 1 Gene"],"phenotypes":["X-linked thrombocytopenia with dyserythropoiesis"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":175,"hash_id":"5763f32a8f620350a22bccde","name":"Inherited bleeding disorders","disease_group":"Haematological and immunological disorders","disease_sub_group":"Haemostasis disorders","status":"public","version":"1.156","version_created":"2019-08-09T13:55:23.938344Z","relevant_disorders":["Inherited platelet disorders","Monogenic thrombophilia","Inherited bleeding and or platelet disorders","Unprovoked Thrombosis before 40","Monogenic venous thrombosis"],"stats":{"number_of_genes":119,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["ERYF1","NFE1","GATA-1","NF-E1"],"biotype":"protein_coding","hgnc_id":"HGNC:4170","gene_name":"GATA binding protein 1","omim_gene":["305371"],"alias_name":["nuclear factor, erythroid 1"],"gene_symbol":"GATA1","hgnc_symbol":"GATA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:48644962-48652716","ensembl_id":"ENSG00000102145"}},"GRch38":{"90":{"location":"X:48786554-48794311","ensembl_id":"ENSG00000102145"}}},"hgnc_date_symbol_changed":"1990-09-10"},"entity_type":"gene","entity_name":"GATA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["16783379","22706301"],"evidence":["NHS GMS","North West GLH","London North GLH","Expert Review Green","Congenital neutropaenia v1.22"],"phenotypes":["Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835","thrombocytopenia","dyserythropoietic anaemia","neutropenia"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":398,"hash_id":null,"name":"Primary immunodeficiency","disease_group":"","disease_sub_group":"","status":"public","version":"1.132","version_created":"2019-09-27T14:37:49.085568Z","relevant_disorders":["Primary immunodeficiency disorders","A- or hypo-gammaglobulinaemia","Congenital neutropaenia","Agranulocytosis","Combined B and T cell defect","Inherited complement deficiency","SCID","Primary immune disorder","Primary immunodeficiency","A-gammaglobulinaemia","Agammaglobulinaemia","hypo-gammaglobulinaemia","hypogammaglobulinemia","immune deficiency syndromes","Severe combined immunodeficiency","Congenital neutopenia","Familial haemophagocytic lymphohistiocytic disorders","Familial hemophagocytic lymphohistiocytic disorders","PID","Sepsis","Disseminated non-tuberculous mycobacterial infection","R15"],"stats":{"number_of_genes":395,"number_of_strs":0,"number_of_regions":2},"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."}]}},{"gene_data":{"alias":["ERYF1","NFE1","GATA-1","NF-E1"],"biotype":"protein_coding","hgnc_id":"HGNC:4170","gene_name":"GATA binding protein 1","omim_gene":["305371"],"alias_name":["nuclear factor, erythroid 1"],"gene_symbol":"GATA1","hgnc_symbol":"GATA1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:48644962-48652716","ensembl_id":"ENSG00000102145"}},"GRch38":{"90":{"location":"X:48786554-48794311","ensembl_id":"ENSG00000102145"}}},"hgnc_date_symbol_changed":"1990-09-10"},"entity_type":"gene","entity_name":"GATA1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["22706301","10700180","24766296","24952648","24453067"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","UKGTN","Eligibility statement prior genetic testing"],"phenotypes":["Myelodysplastic syndrome (MDS), Paediatric","Diamond Blackfan Anaemia","Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835","Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 300367"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["ERYF1","NFE1","GATA-1","NF-E1"],"biotype":"protein_coding","hgnc_id":"HGNC:4170","gene_name":"GATA binding protein 1","omim_gene":["305371"],"alias_name":["nuclear factor, erythroid 1"],"gene_symbol":"GATA1","hgnc_symbol":"GATA1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:48644962-48652716","ensembl_id":"ENSG00000102145"}},"GRch38":{"90":{"location":"X:48786554-48794311","ensembl_id":"ENSG00000102145"}}},"hgnc_date_symbol_changed":"1990-09-10"},"entity_type":"gene","entity_name":"GATA1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["28297620"],"evidence":["Expert Review Green","Curated sources"],"phenotypes":["Class: BM failure syndrome (typ AR)","Diamond Blackfan Anemia","MDS, AML","Osteosarcoma, soft tissue sarcomas"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":59,"hash_id":"594a71908f620375d17ea6b2","name":"Haematological malignancies cancer susceptibility","disease_group":"Cancer Programme","disease_sub_group":"Pertinent cancer susceptibility gene panel","status":"public","version":"1.19","version_created":"2019-08-06T10:21:26.792978Z","relevant_disorders":["Haemonc;Haematological malignancies pertinent cancer susceptibility"],"stats":{"number_of_genes":93,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline 100K","slug":"cancer-germline-100k","description":"Cancer Germline 100K"},{"name":"GMS Cancer Germline Virtual","slug":"gms-cancer-germline-virtual","description":"This is a panel used for WGS germline analysis for the GMS."}]}},{"gene_data":{"alias":["ERYF1","NFE1","GATA-1","NF-E1"],"biotype":"protein_coding","hgnc_id":"HGNC:4170","gene_name":"GATA binding protein 1","omim_gene":["305371"],"alias_name":["nuclear factor, erythroid 1"],"gene_symbol":"GATA1","hgnc_symbol":"GATA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:48644962-48652716","ensembl_id":"ENSG00000102145"}},"GRch38":{"90":{"location":"X:48786554-48794311","ensembl_id":"ENSG00000102145"}}},"hgnc_date_symbol_changed":"1990-09-10"},"entity_type":"gene","entity_name":"GATA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22706301","24766296","30228860"],"evidence":["North West GLH","Yorkshire and North East GLH","London South GLH","NHS GMS","Expert Review Green","Wessex and West Midlands GLH"],"phenotypes":["300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia","Diamond-Blackfan anaemia","Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367","300835 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia","Anemia, X-linked, with/without neutropenia and/or platelet abnormalities","Diamond Blackfan Anaemia","300367 Diamond Blackfan Anaemia","Myelodysplastic syndrome (MDS), Paediatric","Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835","Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 300367"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["ERYF1","NFE1","GATA-1","NF-E1"],"biotype":"protein_coding","hgnc_id":"HGNC:4170","gene_name":"GATA binding protein 1","omim_gene":["305371"],"alias_name":["nuclear factor, erythroid 1"],"gene_symbol":"GATA1","hgnc_symbol":"GATA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:48644962-48652716","ensembl_id":"ENSG00000102145"}},"GRch38":{"90":{"location":"X:48786554-48794311","ensembl_id":"ENSG00000102145"}}},"hgnc_date_symbol_changed":"1990-09-10"},"entity_type":"gene","entity_name":"GATA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10700180","23704091","16103636"],"evidence":["North West GLH","Yorkshire and North East GLH","London South GLH","NHS GMS","Expert Review Green","Wessex and West Midlands GLH"],"phenotypes":["300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":545,"hash_id":null,"name":"Bleeding and platelet disorders","disease_group":"","disease_sub_group":"","status":"public","version":"0.78","version_created":"2019-09-23T11:07:54.788299Z","relevant_disorders":["R90"],"stats":{"number_of_genes":111,"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)"}]}},{"gene_data":{"alias":["ERYF1","NFE1","GATA-1","NF-E1"],"biotype":"protein_coding","hgnc_id":"HGNC:4170","gene_name":"GATA binding protein 1","omim_gene":["305371"],"alias_name":["nuclear factor, erythroid 1"],"gene_symbol":"GATA1","hgnc_symbol":"GATA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:48644962-48652716","ensembl_id":"ENSG00000102145"}},"GRch38":{"90":{"location":"X:48786554-48794311","ensembl_id":"ENSG00000102145"}}},"hgnc_date_symbol_changed":"1990-09-10"},"entity_type":"gene","entity_name":"GATA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22706301","24952648","24766296","10700180","24453067","12200364","11809723"],"evidence":["Expert Review Green","London South GLH","North West GLH","Yorkshire and North East GLH","NHS GMS","Wessex and West Midlands GLH"],"phenotypes":["314050 Thrombocytopenia with beta-thalassemia, X-linked","Diamond Blackfan Anaemia","Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367","Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835","Myelodysplastic syndrome (MDS), Paediatric","Anaemia","thrombocytopenia"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":519,"hash_id":null,"name":"Cytopenia - NOT Fanconi anaemia","disease_group":"","disease_sub_group":"","status":"public","version":"0.120","version_created":"2019-09-23T10:29:43.892929Z","relevant_disorders":["R91","R258"],"stats":{"number_of_genes":84,"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)"}]}}]}
