{"count":9,"next":null,"previous":null,"results":[{"gene_data":{"alias":["CD25"],"biotype":"protein_coding","hgnc_id":"HGNC:6008","gene_name":"interleukin 2 receptor subunit alpha","omim_gene":["147730"],"alias_name":null,"gene_symbol":"IL2RA","hgnc_symbol":"IL2RA","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:6052652-6104288","ensembl_id":"ENSG00000134460"}},"GRch38":{"90":{"location":"10:6010689-6062325","ensembl_id":"ENSG00000134460"}}},"hgnc_date_symbol_changed":"1990-01-22"},"entity_type":"gene","entity_name":"IL2RA","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["23416241","24116927","17196245"],"evidence":["Illumina TruGenome Clinical Sequencing Services","Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen","Expert list"],"phenotypes":["Immunodeficiency 41 with lymphoproliferation and autoimmunity (IPEX-like) 606367"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["CD25"],"biotype":"protein_coding","hgnc_id":"HGNC:6008","gene_name":"interleukin 2 receptor subunit alpha","omim_gene":["147730"],"alias_name":null,"gene_symbol":"IL2RA","hgnc_symbol":"IL2RA","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:6052652-6104288","ensembl_id":"ENSG00000134460"}},"GRch38":{"90":{"location":"10:6010689-6062325","ensembl_id":"ENSG00000134460"}}},"hgnc_date_symbol_changed":"1990-01-22"},"entity_type":"gene","entity_name":"IL2RA","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Radboud University Medical Center, Nijmegen"],"phenotypes":["Interleukin-2 receptor, alpha chain, deficiency of, 606367","{Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":87,"hash_id":"55d1e3f522c1fc237fbd46e9","name":"Multi-organ autoimmune diabetes","disease_group":"Endocrine disorders","disease_sub_group":"Disorders of unusual phenotypes","status":"public","version":"1.7","version_created":"2017-11-05T02:37:20.000817Z","relevant_disorders":[],"stats":{"number_of_genes":42,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["CD25"],"biotype":"protein_coding","hgnc_id":"HGNC:6008","gene_name":"interleukin 2 receptor subunit alpha","omim_gene":["147730"],"alias_name":null,"gene_symbol":"IL2RA","hgnc_symbol":"IL2RA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:6052652-6104288","ensembl_id":"ENSG00000134460"}},"GRch38":{"90":{"location":"10:6010689-6062325","ensembl_id":"ENSG00000134460"}}},"hgnc_date_symbol_changed":"1990-01-22"},"entity_type":"gene","entity_name":"IL2RA","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["28787010"],"evidence":["Literature"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":394,"hash_id":null,"name":"Familial Meniere Disease","disease_group":"Hearing and ear disorders","disease_sub_group":"Other hearing and ear disorders","status":"public","version":"1.1","version_created":"2018-01-17T16:26:29.432517Z","relevant_disorders":[],"stats":{"number_of_genes":130,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["CD25"],"biotype":"protein_coding","hgnc_id":"HGNC:6008","gene_name":"interleukin 2 receptor subunit alpha","omim_gene":["147730"],"alias_name":null,"gene_symbol":"IL2RA","hgnc_symbol":"IL2RA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:6052652-6104288","ensembl_id":"ENSG00000134460"}},"GRch38":{"90":{"location":"10:6010689-6062325","ensembl_id":"ENSG00000134460"}}},"hgnc_date_symbol_changed":"1990-01-22"},"entity_type":"gene","entity_name":"IL2RA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["23416241","24116927","17196245"],"evidence":["Expert Review Green","Emory Genetics Laboratory"],"phenotypes":["Early Onset Inflammatory Bowel Disease","Immunodeficiency 41 with lymphoproliferation and autoimmunity (IPEX-like) 606367"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["CD25"],"biotype":"protein_coding","hgnc_id":"HGNC:6008","gene_name":"interleukin 2 receptor subunit alpha","omim_gene":["147730"],"alias_name":null,"gene_symbol":"IL2RA","hgnc_symbol":"IL2RA","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:6052652-6104288","ensembl_id":"ENSG00000134460"}},"GRch38":{"90":{"location":"10:6010689-6062325","ensembl_id":"ENSG00000134460"}}},"hgnc_date_symbol_changed":"1990-01-22"},"entity_type":"gene","entity_name":"IL2RA","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["17196245"],"evidence":["Expert Review Red","Expert Review"],"phenotypes":[],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":26,"hash_id":"55a9238422c1fc6711b0c6c3","name":"Diabetes with additional phenotypes suggestive of a monogenic aetiology","disease_group":"Endocrine disorders","disease_sub_group":"Disorders of unusual phenotypes","status":"public","version":"1.59","version_created":"2019-06-20T15:15:00.936648Z","relevant_disorders":[],"stats":{"number_of_genes":64,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["CD25"],"biotype":"protein_coding","hgnc_id":"HGNC:6008","gene_name":"interleukin 2 receptor subunit alpha","omim_gene":["147730"],"alias_name":null,"gene_symbol":"IL2RA","hgnc_symbol":"IL2RA","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:6052652-6104288","ensembl_id":"ENSG00000134460"}},"GRch38":{"90":{"location":"10:6010689-6062325","ensembl_id":"ENSG00000134460"}}},"hgnc_date_symbol_changed":"1990-01-22"},"entity_type":"gene","entity_name":"IL2RA","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["17196245"],"evidence":["NHS GMS","Expert Review Green","Expert Review"],"phenotypes":["neonatal diabetes","insulin-dependent diabetes mellitus at 8-weeks","IPEX-like syndrome","{Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942","Neoantal diabetes, congenital hypothyrodism (multiple autoimmune) Recessive"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":293,"hash_id":"55a9041e22c1fc6711b0c6c0","name":"Diabetes - neonatal onset","disease_group":"Endocrine disorders","disease_sub_group":"Disorders of unusual phenotypes","status":"public","version":"2.0","version_created":"2019-07-31T13:43:22.297175Z","relevant_disorders":["Neonatal diabetes (diagnosed less than 6 months)","Neonatal diabetes","Neonatal diabetes diagnosed <6 months","R143"],"stats":{"number_of_genes":33,"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":"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":["CD25"],"biotype":"protein_coding","hgnc_id":"HGNC:6008","gene_name":"interleukin 2 receptor subunit alpha","omim_gene":["147730"],"alias_name":null,"gene_symbol":"IL2RA","hgnc_symbol":"IL2RA","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:6052652-6104288","ensembl_id":"ENSG00000134460"}},"GRch38":{"90":{"location":"10:6010689-6062325","ensembl_id":"ENSG00000134460"}}},"hgnc_date_symbol_changed":"1990-01-22"},"entity_type":"gene","entity_name":"IL2RA","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["17196245"],"evidence":["Expert Review Removed","Expert Review Red","Expert Review"],"phenotypes":[],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":152,"hash_id":"553f9745bb5a1616e5ed45e9","name":"Familial diabetes","disease_group":"Endocrine disorders","disease_sub_group":"Disorders of unusual phenotypes","status":"public","version":"1.38","version_created":"2019-06-20T15:15:02.453936Z","relevant_disorders":["Familial young-onset non-insulin-dependent diabetes"],"stats":{"number_of_genes":56,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["CD25"],"biotype":"protein_coding","hgnc_id":"HGNC:6008","gene_name":"interleukin 2 receptor subunit alpha","omim_gene":["147730"],"alias_name":null,"gene_symbol":"IL2RA","hgnc_symbol":"IL2RA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:6052652-6104288","ensembl_id":"ENSG00000134460"}},"GRch38":{"90":{"location":"10:6010689-6062325","ensembl_id":"ENSG00000134460"}}},"hgnc_date_symbol_changed":"1990-01-22"},"entity_type":"gene","entity_name":"IL2RA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["9096364","17196245","23416241","24116927"],"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"],"phenotypes":["Interleukin-2 receptor, alpha chain, deficiency of","Combined immunodeficiency","Omenn syndrome","Interleukin 2 receptor alpha deficiency (CD25) (IPEX phenotype)","Immunodeficiency 41 with lymphoproliferation and autoimmunity, 606367","Lymphoproliferation, autoimmunity, impaired T cell proliferation","Diseases of Immune Dysregulation"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["CD25"],"biotype":"protein_coding","hgnc_id":"HGNC:6008","gene_name":"interleukin 2 receptor subunit alpha","omim_gene":["147730"],"alias_name":null,"gene_symbol":"IL2RA","hgnc_symbol":"IL2RA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:6052652-6104288","ensembl_id":"ENSG00000134460"}},"GRch38":{"90":{"location":"10:6010689-6062325","ensembl_id":"ENSG00000134460"}}},"hgnc_date_symbol_changed":"1990-01-22"},"entity_type":"gene","entity_name":"IL2RA","confidence_level":"0","penetrance":null,"mode_of_pathogenicity":"","publications":["17196245"],"evidence":["Expert Review Removed"],"phenotypes":[],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":472,"hash_id":null,"name":"Monogenic diabetes","disease_group":"","disease_sub_group":"","status":"public","version":"2.1","version_created":"2019-07-31T13:20:07.800002Z","relevant_disorders":["R141"],"stats":{"number_of_genes":77,"number_of_strs":0,"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":"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."}]}}]}