{"count":6,"next":null,"previous":null,"results":[{"gene_data":{"alias":["KIAA0233"],"biotype":"protein_coding","hgnc_id":"HGNC:28993","gene_name":"piezo type mechanosensitive ion channel component 1","omim_gene":["611184"],"alias_name":null,"gene_symbol":"PIEZO1","hgnc_symbol":"PIEZO1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"16:88781751-88851619","ensembl_id":"ENSG00000103335"}},"GRch38":{"90":{"location":"16:88715343-88785211","ensembl_id":"ENSG00000103335"}}},"hgnc_date_symbol_changed":"2011-08-31"},"entity_type":"gene","entity_name":"PIEZO1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["26333996","26387913"],"evidence":["Expert Review Green","Other"],"phenotypes":["Lymphedema, hereditary, III, 616843","LMPH3","Hereditary lymphoedema type III","2nd trimester fetal hydrops, Nuchal translucency likely to be normal, Lethal and non lethal cases within the same family"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":144,"hash_id":"5763f4868f620350a199604f","name":"Fetal hydrops","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Fetal disorders","status":"public","version":"1.16","version_created":"2018-12-05T18:38:09.145885Z","relevant_disorders":[],"stats":{"number_of_genes":67,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["KIAA0233"],"biotype":"protein_coding","hgnc_id":"HGNC:28993","gene_name":"piezo type mechanosensitive ion channel component 1","omim_gene":["611184"],"alias_name":null,"gene_symbol":"PIEZO1","hgnc_symbol":"PIEZO1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"16:88781751-88851619","ensembl_id":"ENSG00000103335"}},"GRch38":{"90":{"location":"16:88715343-88785211","ensembl_id":"ENSG00000103335"}}},"hgnc_date_symbol_changed":"2011-08-31"},"entity_type":"gene","entity_name":"PIEZO1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["22529292","23695678","16898969","23479567","23973043","23581886"],"evidence":["Expert Review Green","BRIDGE consortium (NIHRBR-RD)"],"phenotypes":["Stomatocytosis","Dehydrated hereditary stomatocytosis","Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380","Hereditary xerocytosis"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["KIAA0233"],"biotype":"protein_coding","hgnc_id":"HGNC:28993","gene_name":"piezo type mechanosensitive ion channel component 1","omim_gene":["611184"],"alias_name":null,"gene_symbol":"PIEZO1","hgnc_symbol":"PIEZO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:88781751-88851619","ensembl_id":"ENSG00000103335"}},"GRch38":{"90":{"location":"16:88715343-88785211","ensembl_id":"ENSG00000103335"}}},"hgnc_date_symbol_changed":"2011-08-31"},"entity_type":"gene","entity_name":"PIEZO1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23695678","22529292"],"evidence":["North West GLH","Yorkshire and North East GLH","London South GLH","NHS GMS","Expert Review Green","Wessex and West Midlands GLH"],"phenotypes":["194380 Stomatocytosis","616843 Lymphatic malformation 6","194380 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema","Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema","Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380","Stomatocytosis","Hereditary xerocytosis","Dehydrated hereditary stomatocytosis"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["KIAA0233"],"biotype":"protein_coding","hgnc_id":"HGNC:28993","gene_name":"piezo type mechanosensitive ion channel component 1","omim_gene":["611184"],"alias_name":null,"gene_symbol":"PIEZO1","hgnc_symbol":"PIEZO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:88781751-88851619","ensembl_id":"ENSG00000103335"}},"GRch38":{"90":{"location":"16:88715343-88785211","ensembl_id":"ENSG00000103335"}}},"hgnc_date_symbol_changed":"2011-08-31"},"entity_type":"gene","entity_name":"PIEZO1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26333996","23695678","28425981","30712880"],"evidence":["Expert Review Green","PAGE Additional Gene List","PAGE DD-Gene2Phenotype"],"phenotypes":["hydrops fetalis gene 616843","Congenital lymphatic dysplasia with hydrops and/or lymphoedema"],"mode_of_inheritance":"BOTH monoallelic and 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":["KIAA0233"],"biotype":"protein_coding","hgnc_id":"HGNC:28993","gene_name":"piezo type mechanosensitive ion channel component 1","omim_gene":["611184"],"alias_name":null,"gene_symbol":"PIEZO1","hgnc_symbol":"PIEZO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:88781751-88851619","ensembl_id":"ENSG00000103335"}},"GRch38":{"90":{"location":"16:88715343-88785211","ensembl_id":"ENSG00000103335"}}},"hgnc_date_symbol_changed":"2011-08-31"},"entity_type":"gene","entity_name":"PIEZO1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["26387913"],"evidence":["DD-Gene2Phenotype","Expert Review Amber"],"phenotypes":["Congenital lymphatic dysplasia with hydrops and/or lymphoedema"],"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":["KIAA0233"],"biotype":"protein_coding","hgnc_id":"HGNC:28993","gene_name":"piezo type mechanosensitive ion channel component 1","omim_gene":["611184"],"alias_name":null,"gene_symbol":"PIEZO1","hgnc_symbol":"PIEZO1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"16:88781751-88851619","ensembl_id":"ENSG00000103335"}},"GRch38":{"90":{"location":"16:88715343-88785211","ensembl_id":"ENSG00000103335"}}},"hgnc_date_symbol_changed":"2011-08-31"},"entity_type":"gene","entity_name":"PIEZO1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["26333996","26387913"],"evidence":["London South GLH","Expert Review Green","Expert list"],"phenotypes":["Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 194380","Lymphatic malformation 6 616843"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":65,"hash_id":"57ee82ef8f62035c9b2d0487","name":"Primary lymphoedema","disease_group":"Cardiovascular disorders","disease_sub_group":"Lymphatic Disorders","status":"public","version":"2.0","version_created":"2019-10-02T14:10:33.689992Z","relevant_disorders":["Lymphatic Disorders","Meiges disease","Meige disease","Milroy disease","Lymphoedema distichiasis","Lipoedema disease","R136"],"stats":{"number_of_genes":51,"number_of_strs":0,"number_of_regions":0},"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":"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."}]}}]}