{"count":8,"next":null,"previous":null,"results":[{"gene_data":{"alias":["ATK","XLA","PSCTK1"],"biotype":"protein_coding","hgnc_id":"HGNC:1133","gene_name":"Bruton tyrosine kinase","omim_gene":["300300"],"alias_name":["Bruton's tyrosine kinase"],"gene_symbol":"BTK","hgnc_symbol":"BTK","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:100604435-100641183","ensembl_id":"ENSG00000010671"}},"GRch38":{"90":{"location":"X:101349447-101390796","ensembl_id":"ENSG00000010671"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"BTK","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services","UKGTN","Emory Genetics Laboratory","Expert list"],"phenotypes":["Agammaglobulinemia and isolated hormone deficiency\t307200","Agammaglobulinemia, X-linked 1 300755"],"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":176,"hash_id":"56ba026c22c1fc5025762b50","name":"Infantile enterocolitis & monogenic inflammatory bowel disease","disease_group":"Gastroenterological disorders","disease_sub_group":"Gastrointestinal disorders","status":"public","version":"1.16","version_created":"2017-11-05T02:37:20.171671Z","relevant_disorders":["Infantile enterocolitis and monogenic inflammatory bowel disease"],"stats":{"number_of_genes":62,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["ATK","XLA","PSCTK1"],"biotype":"protein_coding","hgnc_id":"HGNC:1133","gene_name":"Bruton tyrosine kinase","omim_gene":["300300"],"alias_name":["Bruton's tyrosine kinase"],"gene_symbol":"BTK","hgnc_symbol":"BTK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:100604435-100641183","ensembl_id":"ENSG00000010671"}},"GRch38":{"90":{"location":"X:101349447-101390796","ensembl_id":"ENSG00000010671"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"BTK","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Emory Genetics Laboratory"],"phenotypes":["Early Onset Inflammatory Bowel Disease","Agammaglobulinemia and isolated hormone deficiency 307200","Agammaglobulinemia, X-linked 1 300755"],"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":33,"hash_id":"56ba026422c1fc5025762b4f","name":"Gastrointestinal epithelial barrier disorders","disease_group":"Gastroenterological disorders","disease_sub_group":"Gastrointestinal disorders","status":"public","version":"1.59","version_created":"2019-06-20T15:11:44.535737Z","relevant_disorders":[],"stats":{"number_of_genes":82,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["ATK","XLA","PSCTK1"],"biotype":"protein_coding","hgnc_id":"HGNC:1133","gene_name":"Bruton tyrosine kinase","omim_gene":["300300"],"alias_name":["Bruton's tyrosine kinase"],"gene_symbol":"BTK","hgnc_symbol":"BTK","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:100604435-100641183","ensembl_id":"ENSG00000010671"}},"GRch38":{"90":{"location":"X:101349447-101390796","ensembl_id":"ENSG00000010671"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"BTK","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Emory Genetics Laboratory"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":131,"hash_id":"553f9744bb5a1616e5ed45e8","name":"IUGR and IGF abnormalities","disease_group":"Endocrine disorders","disease_sub_group":"Growth hormone disorders","status":"public","version":"1.29","version_created":"2019-08-05T14:01:03.716110Z","relevant_disorders":[],"stats":{"number_of_genes":110,"number_of_strs":0,"number_of_regions":5},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["ATK","XLA","PSCTK1"],"biotype":"protein_coding","hgnc_id":"HGNC:1133","gene_name":"Bruton tyrosine kinase","omim_gene":["300300"],"alias_name":["Bruton's tyrosine kinase"],"gene_symbol":"BTK","hgnc_symbol":"BTK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:100604435-100641183","ensembl_id":"ENSG00000010671"}},"GRch38":{"90":{"location":"X:101349447-101390796","ensembl_id":"ENSG00000010671"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"BTK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["8013627","7849697","9554752"],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory"],"phenotypes":["Isolated growth hormone deficiency, type III, with agammaglobulinemia (307200)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":483,"hash_id":null,"name":"Pituitary hormone deficiency","disease_group":"","disease_sub_group":"","status":"public","version":"2.0","version_created":"2019-07-31T14:30:21.964840Z","relevant_disorders":["R159"],"stats":{"number_of_genes":50,"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."},{"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":["ATK","XLA","PSCTK1"],"biotype":"protein_coding","hgnc_id":"HGNC:1133","gene_name":"Bruton tyrosine kinase","omim_gene":["300300"],"alias_name":["Bruton's tyrosine kinase"],"gene_symbol":"BTK","hgnc_symbol":"BTK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:100604435-100641183","ensembl_id":"ENSG00000010671"}},"GRch38":{"90":{"location":"X:101349447-101390796","ensembl_id":"ENSG00000010671"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"BTK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["20301626"],"evidence":["NHS GMS","North West GLH","London North GLH","IUIS Classification February 2018","Victorian Clinical Genetics Services","Expert Review Green","ESID Registry 20171117","GRID V2.0","GOSH PID v.8.0","A- or hypo-gammaglobulinaemia v1.25"],"phenotypes":["Agammaglobulinemia and isolated hormone deficiency","Agammaglobulinemia, X-linked","Agammaglobulinemia, X-linked 1, 300755","Agammaglobulinemia and isolated hormone deficiency, 307200","Agammaglobulinemia, X-linked 1 (XLA)","Agammaglobulinemia","agammaglobulinaemia","CVID","Severe bacterial infections, normal numbers of pro-B cells","Predominantly Antibody Deficiencies"],"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":["ATK","XLA","PSCTK1"],"biotype":"protein_coding","hgnc_id":"HGNC:1133","gene_name":"Bruton tyrosine kinase","omim_gene":["300300"],"alias_name":["Bruton's tyrosine kinase"],"gene_symbol":"BTK","hgnc_symbol":"BTK","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:100604435-100641183","ensembl_id":"ENSG00000010671"}},"GRch38":{"90":{"location":"X:101349447-101390796","ensembl_id":"ENSG00000010671"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"BTK","confidence_level":"0","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Removed","Emory Genetics Laboratory"],"phenotypes":["Proportionate Short Stature/Small for Gestational Age"],"mode_of_inheritance":"","tags":[],"panel":{"id":196,"hash_id":"55896ed2bb5a1671a7fef4f9","name":"Osteogenesis imperfecta","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","status":"public","version":"2.0","version_created":"2019-09-04T11:35:54.595856Z","relevant_disorders":["Osteogenesis Imperfecta","R102"],"stats":{"number_of_genes":184,"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)"},{"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":["ATK","XLA","PSCTK1"],"biotype":"protein_coding","hgnc_id":"HGNC:1133","gene_name":"Bruton tyrosine kinase","omim_gene":["300300"],"alias_name":["Bruton's tyrosine kinase"],"gene_symbol":"BTK","hgnc_symbol":"BTK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:100604435-100641183","ensembl_id":"ENSG00000010671"}},"GRch38":{"90":{"location":"X:101349447-101390796","ensembl_id":"ENSG00000010671"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"BTK","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":473,"hash_id":null,"name":"Growth failure in early childhood","disease_group":"","disease_sub_group":"","status":"public","version":"1.3","version_created":"2019-08-14T09:11:49.488162Z","relevant_disorders":["R147"],"stats":{"number_of_genes":126,"number_of_strs":0,"number_of_regions":5},"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":"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":["ATK","XLA","PSCTK1"],"biotype":"protein_coding","hgnc_id":"HGNC:1133","gene_name":"Bruton tyrosine kinase","omim_gene":["300300"],"alias_name":["Bruton's tyrosine kinase"],"gene_symbol":"BTK","hgnc_symbol":"BTK","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:100604435-100641183","ensembl_id":"ENSG00000010671"}},"GRch38":{"90":{"location":"X:101349447-101390796","ensembl_id":"ENSG00000010671"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"BTK","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["26350204"],"evidence":["Expert Review Red"],"phenotypes":["Agammaglobulinemia and isolated hormone deficiency 307200","Agammaglobulinemia, X-linked 1 300755"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":285,"hash_id":"558aa423bb5a16630e15b63c","name":"Intellectual disability","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neurodevelopmental disorders","status":"public","version":"2.1065","version_created":"2019-10-07T13:42:16.019766Z","relevant_disorders":["Coarse facial features including Coffin-Siris-like disorders","ID","Moderate","severe or profound intellectual disability","Schizophrenia plus additional features","Intellectual disability - microarray","fragile X and sequencing"],"stats":{"number_of_genes":2253,"number_of_strs":11,"number_of_regions":57},"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"}]}}]}