{"count":9,"next":null,"previous":null,"results":[{"gene_data":{"alias":["amnionless"],"biotype":"protein_coding","hgnc_id":"HGNC:14604","gene_name":"amnion associated transmembrane protein","omim_gene":["605799"],"alias_name":null,"gene_symbol":"AMN","hgnc_symbol":"AMN","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"14:103388993-103399933","ensembl_id":"ENSG00000166126"}},"GRch38":{"90":{"location":"14:102922656-102933596","ensembl_id":"ENSG00000166126"}}},"hgnc_date_symbol_changed":"2002-12-03"},"entity_type":"gene","entity_name":"AMN","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["15024727"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen"],"phenotypes":["Megaloblastic anemia-1, Norwegian type, 261100"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"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":["amnionless"],"biotype":"protein_coding","hgnc_id":"HGNC:14604","gene_name":"amnion associated transmembrane protein","omim_gene":["605799"],"alias_name":null,"gene_symbol":"AMN","hgnc_symbol":"AMN","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"14:103388993-103399933","ensembl_id":"ENSG00000166126"}},"GRch38":{"90":{"location":"14:102922656-102933596","ensembl_id":"ENSG00000166126"}}},"hgnc_date_symbol_changed":"2002-12-03"},"entity_type":"gene","entity_name":"AMN","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["12590260"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","UKGTN"],"phenotypes":["Megaloblastic anemia-1, Norwegian type\t261100"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":156,"hash_id":"5693974122c1fc251660fb1f","name":"Unexplained kidney failure in young people","disease_group":"Renal and urinary tract disorders","disease_sub_group":"Disorders of function","status":"public","version":"1.73","version_created":"2019-07-17T16:13:42.477129Z","relevant_disorders":["Familial IgA nephropathy and IgA vasculitis","End-stage renal disease - childhood onset"],"stats":{"number_of_genes":166,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["amnionless"],"biotype":"protein_coding","hgnc_id":"HGNC:14604","gene_name":"amnion associated transmembrane protein","omim_gene":["605799"],"alias_name":null,"gene_symbol":"AMN","hgnc_symbol":"AMN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:103388993-103399933","ensembl_id":"ENSG00000166126"}},"GRch38":{"90":{"location":"14:102922656-102933596","ensembl_id":"ENSG00000166126"}}},"hgnc_date_symbol_changed":"2002-12-03"},"entity_type":"gene","entity_name":"AMN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12590260","17285242"],"evidence":["Expert Review Green","North West GLH","Yorkshire and North East GLH","London South GLH","NHS GMS","Wessex and West Midlands GLH"],"phenotypes":["Megaloblastic anemia-1, Norwegian type, 261100","261100 Megaloblastic anemia-1, Norwegian type"],"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."}]}},{"gene_data":{"alias":["amnionless"],"biotype":"protein_coding","hgnc_id":"HGNC:14604","gene_name":"amnion associated transmembrane protein","omim_gene":["605799"],"alias_name":null,"gene_symbol":"AMN","hgnc_symbol":"AMN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:103388993-103399933","ensembl_id":"ENSG00000166126"}},"GRch38":{"90":{"location":"14:102922656-102933596","ensembl_id":"ENSG00000166126"}}},"hgnc_date_symbol_changed":"2002-12-03"},"entity_type":"gene","entity_name":"AMN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12590260"],"evidence":["Expert Review Green"],"phenotypes":["Megaloblastic anemia-1, Norwegian type 261100"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":493,"hash_id":null,"name":"Renal and urinary tract disorders","disease_group":"","disease_sub_group":"","status":"public","version":"1.18","version_created":"2019-07-04T13:55:26.963386Z","relevant_disorders":[],"stats":{"number_of_genes":177,"number_of_strs":0,"number_of_regions":3},"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":["amnionless"],"biotype":"protein_coding","hgnc_id":"HGNC:14604","gene_name":"amnion associated transmembrane protein","omim_gene":["605799"],"alias_name":null,"gene_symbol":"AMN","hgnc_symbol":"AMN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:103388993-103399933","ensembl_id":"ENSG00000166126"}},"GRch38":{"90":{"location":"14:102922656-102933596","ensembl_id":"ENSG00000166126"}}},"hgnc_date_symbol_changed":"2002-12-03"},"entity_type":"gene","entity_name":"AMN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12590260"],"evidence":["Expert Review Green"],"phenotypes":["Megaloblastic anemia-1, Norwegian type 261100"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":678,"hash_id":null,"name":"Unexplained paediatric onset end-stage renal disease","disease_group":"","disease_sub_group":"","status":"public","version":"0.43","version_created":"2019-09-25T12:25:36.245604Z","relevant_disorders":["R257"],"stats":{"number_of_genes":229,"number_of_strs":0,"number_of_regions":3},"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":["amnionless"],"biotype":"protein_coding","hgnc_id":"HGNC:14604","gene_name":"amnion associated transmembrane protein","omim_gene":["605799"],"alias_name":null,"gene_symbol":"AMN","hgnc_symbol":"AMN","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"14:103388993-103399933","ensembl_id":"ENSG00000166126"}},"GRch38":{"90":{"location":"14:102922656-102933596","ensembl_id":"ENSG00000166126"}}},"hgnc_date_symbol_changed":"2002-12-03"},"entity_type":"gene","entity_name":"AMN","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Intrinsic factor receptor deficiency due to AMN mutations (Disorders of cobalamin absorption, transport and metabolism)","Proteinuric renal disease","Unexplained kidney failure in young people"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":302,"hash_id":"5763f1518f620350a22bccdb","name":"Undiagnosed metabolic disorders","disease_group":"Metabolic disorders","disease_sub_group":"Specific metabolic abnormalities","status":"public","version":"1.373","version_created":"2019-10-08T14:47:17.153678Z","relevant_disorders":["Undiagnosed Metabolic Panel"],"stats":{"number_of_genes":744,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["amnionless"],"biotype":"protein_coding","hgnc_id":"HGNC:14604","gene_name":"amnion associated transmembrane protein","omim_gene":["605799"],"alias_name":null,"gene_symbol":"AMN","hgnc_symbol":"AMN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:103388993-103399933","ensembl_id":"ENSG00000166126"}},"GRch38":{"90":{"location":"14:102922656-102933596","ensembl_id":"ENSG00000166126"}}},"hgnc_date_symbol_changed":"2002-12-03"},"entity_type":"gene","entity_name":"AMN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308"],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Intrinsic factor receptor deficiency due to AMN mutations (Disorders of cobalamin absorption, transport and metabolism)","Proteinuric renal disease","Unexplained kidney failure in young people"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":467,"hash_id":null,"name":"Inborn errors of metabolism","disease_group":"","disease_sub_group":"","status":"public","version":"1.348","version_created":"2019-10-09T08:19:52.386941Z","relevant_disorders":["Likely inborn error of metabolism - targeted testing not possible"],"stats":{"number_of_genes":877,"number_of_strs":2,"number_of_regions":1},"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."},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["amnionless"],"biotype":"protein_coding","hgnc_id":"HGNC:14604","gene_name":"amnion associated transmembrane protein","omim_gene":["605799"],"alias_name":null,"gene_symbol":"AMN","hgnc_symbol":"AMN","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"14:103388993-103399933","ensembl_id":"ENSG00000166126"}},"GRch38":{"90":{"location":"14:102922656-102933596","ensembl_id":"ENSG00000166126"}}},"hgnc_date_symbol_changed":"2002-12-03"},"entity_type":"gene","entity_name":"AMN","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Red"],"phenotypes":[],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":307,"hash_id":"56e0238b22c1fc09c97a6e46","name":"Retinal disorders","disease_group":"Ophthalmological disorders","disease_sub_group":"Posterior segment abnormalities","status":"public","version":"1.199","version_created":"2019-10-08T09:22:18.436205Z","relevant_disorders":["Posterior segment abnormalities","Cone Dysfunction Syndrome","Developmental macular and foveal dystrophy","Inherited macular dystrophy","Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy","Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy","Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy","Rod Dysfunction Syndrome","Rod-cone dystrophy","Familial exudative vitreoretinopathy","Familial exudative retinopathy","R32","R33","R34","R35"],"stats":{"number_of_genes":320,"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."}]}},{"gene_data":{"alias":["amnionless"],"biotype":"protein_coding","hgnc_id":"HGNC:14604","gene_name":"amnion associated transmembrane protein","omim_gene":["605799"],"alias_name":null,"gene_symbol":"AMN","hgnc_symbol":"AMN","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"14:103388993-103399933","ensembl_id":"ENSG00000166126"}},"GRch38":{"90":{"location":"14:102922656-102933596","ensembl_id":"ENSG00000166126"}}},"hgnc_date_symbol_changed":"2002-12-03"},"entity_type":"gene","entity_name":"AMN","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":["12590260","26040326"],"evidence":["Expert Review Amber","NHS GMS","Expert","Radboud University Medical Center, Nijmegen"],"phenotypes":["Megaloblastic anemia-1, Norwegian type, 261100","(originally on the Imerslund-Grasbeck syndrome gene panel)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":106,"hash_id":"55af787822c1fc78a829f89f","name":"Proteinuric renal disease","disease_group":"Renal and urinary tract disorders","disease_sub_group":"Syndromes with prominent renal abnormalities","status":"public","version":"1.225","version_created":"2019-10-09T10:57:45.692187Z","relevant_disorders":["R195"],"stats":{"number_of_genes":95,"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","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)"}]}}]}