{"count":4,"next":null,"previous":null,"results":[{"gene_data":{"alias":["GFI1A","GFI-1"],"biotype":"protein_coding","hgnc_id":"HGNC:4237","gene_name":"growth factor independent 1 transcriptional repressor","omim_gene":["600871"],"alias_name":null,"gene_symbol":"GFI1","hgnc_symbol":"GFI1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:92940319-92952433","ensembl_id":"ENSG00000162676"}},"GRch38":{"90":{"location":"1:92474762-92486876","ensembl_id":"ENSG00000162676"}}},"hgnc_date_symbol_changed":"1994-10-17"},"entity_type":"gene","entity_name":"GFI1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"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","Congenital neutropaenia v1.22"],"phenotypes":["Neutropenia, nonimmune chronic idiopathic, of adults, 607847","Severe congenital 2, autosomal dominant, 613107","Neutropenia, severe congenital 2","Congenital neutropenia","Severe congenital neutropenia","Chronic non-immune neutropenia of adults","B/T lymphopenia","Congenital defects of phagocyte number or function"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["GFI1A","GFI-1"],"biotype":"protein_coding","hgnc_id":"HGNC:4237","gene_name":"growth factor independent 1 transcriptional repressor","omim_gene":["600871"],"alias_name":null,"gene_symbol":"GFI1","hgnc_symbol":"GFI1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:92940319-92952433","ensembl_id":"ENSG00000162676"}},"GRch38":{"90":{"location":"1:92474762-92486876","ensembl_id":"ENSG00000162676"}}},"hgnc_date_symbol_changed":"1994-10-17"},"entity_type":"gene","entity_name":"GFI1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["12778173","19775295","11810106","12530980"],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen","Expert list","UKGTN"],"phenotypes":["Inherited Bone Marrow Failure Syndromes - 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Neutropenia","Neutropenia, Severe Congenital, 2 Autosomal Dominant","Neutropenia, Nonimmune Chronic Idiopathic, Of Adults","Neutropenia, severe congenital 2, autosomal dominant, 613107","607847 ?Neutropenia, nonimmune chronic idiopathic, of adults"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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)"}]}},{"gene_data":{"alias":["GFI1A","GFI-1"],"biotype":"protein_coding","hgnc_id":"HGNC:4237","gene_name":"growth factor independent 1 transcriptional repressor","omim_gene":["600871"],"alias_name":null,"gene_symbol":"GFI1","hgnc_symbol":"GFI1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:92940319-92952433","ensembl_id":"ENSG00000162676"}},"GRch38":{"90":{"location":"1:92474762-92486876","ensembl_id":"ENSG00000162676"}}},"hgnc_date_symbol_changed":"1994-10-17"},"entity_type":"gene","entity_name":"GFI1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":126,"hash_id":"558ac48fbb5a16630dcfeaad","name":"Hearing loss","disease_group":"Hearing and ear disorders","disease_sub_group":"Non-syndromic hearing loss","status":"public","version":"2.2","version_created":"2019-09-03T14:01:56.987667Z","relevant_disorders":["Congenital hearing impairment","Autosomal dominant deafness","Congenital hearing impairment (profound/severe)","R67"],"stats":{"number_of_genes":358,"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."},{"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)"}]}}]}
