{"count":17,"next":null,"previous":null,"results":[{"gene_data":{"alias":["BS","RECQL3","RECQ2"],"biotype":"protein_coding","hgnc_id":"HGNC:1058","gene_name":"Bloom syndrome RecQ like helicase","omim_gene":["604610"],"alias_name":null,"gene_symbol":"BLM","hgnc_symbol":"BLM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:91260558-91358859","ensembl_id":"ENSG00000197299"}},"GRch38":{"90":{"location":"15:90717327-90816165","ensembl_id":"ENSG00000197299"}}},"hgnc_date_symbol_changed":"1992-11-06"},"entity_type":"gene","entity_name":"BLM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28297620","Cancer Gene Census"],"evidence":["Expert Review Green","Curated sources"],"phenotypes":["Class: BM failure syndrome (typ AR)","Bloom syndrome","leukaemia","lymphoma","skin squamous cell","other tumour types","Lymphoma","ALL","MDS","AML","Leukaemia","Carcinomas"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":407,"hash_id":null,"name":"Haematological malignancies for rare disease","disease_group":"Tumour syndromes","disease_sub_group":"Tumour syndromes","status":"public","version":"1.1","version_created":"2019-06-20T15:11:49.421852Z","relevant_disorders":[],"stats":{"number_of_genes":89,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["BS","RECQL3","RECQ2"],"biotype":"protein_coding","hgnc_id":"HGNC:1058","gene_name":"Bloom syndrome RecQ like helicase","omim_gene":["604610"],"alias_name":null,"gene_symbol":"BLM","hgnc_symbol":"BLM","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:91260558-91358859","ensembl_id":"ENSG00000197299"}},"GRch38":{"90":{"location":"15:90717327-90816165","ensembl_id":"ENSG00000197299"}}},"hgnc_date_symbol_changed":"1992-11-06"},"entity_type":"gene","entity_name":"BLM","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Emory Genetics Laboratory"],"phenotypes":["Bloom syndrome, 210900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["BS","RECQL3","RECQ2"],"biotype":"protein_coding","hgnc_id":"HGNC:1058","gene_name":"Bloom syndrome RecQ like helicase","omim_gene":["604610"],"alias_name":null,"gene_symbol":"BLM","hgnc_symbol":"BLM","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:91260558-91358859","ensembl_id":"ENSG00000197299"}},"GRch38":{"90":{"location":"15:90717327-90816165","ensembl_id":"ENSG00000197299"}}},"hgnc_date_symbol_changed":"1992-11-06"},"entity_type":"gene","entity_name":"BLM","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["20301572"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Bloom syndrome 210900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":155,"hash_id":"575ed2398f62034208b69ee1","name":"Primary ovarian insufficiency","disease_group":"Endocrine disorders","disease_sub_group":"Gonadal and sex development disorders","status":"public","version":"1.16","version_created":"2019-06-20T15:13:53.581309Z","relevant_disorders":["Early onset familial premature ovarian insufficiency","Early onset familial premature ovarian failure"],"stats":{"number_of_genes":56,"number_of_strs":1,"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":["BS","RECQL3","RECQ2"],"biotype":"protein_coding","hgnc_id":"HGNC:1058","gene_name":"Bloom syndrome RecQ like helicase","omim_gene":["604610"],"alias_name":null,"gene_symbol":"BLM","hgnc_symbol":"BLM","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:91260558-91358859","ensembl_id":"ENSG00000197299"}},"GRch38":{"90":{"location":"15:90717327-90816165","ensembl_id":"ENSG00000197299"}}},"hgnc_date_symbol_changed":"1992-11-06"},"entity_type":"gene","entity_name":"BLM","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services","Emory Genetics Laboratory","UKGTN","Literature"],"phenotypes":["Bloom syndrome\t210900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":174,"hash_id":"55b2109c22c1fc7dd7ce411f","name":"Insulin resistance (including lipodystrophy)","disease_group":"Endocrine disorders","disease_sub_group":"Disorders of unusual phenotypes","status":"public","version":"1.11","version_created":"2019-06-20T15:15:09.915719Z","relevant_disorders":["Insulin resistance (including lipodystrophy"],"stats":{"number_of_genes":26,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["BS","RECQL3","RECQ2"],"biotype":"protein_coding","hgnc_id":"HGNC:1058","gene_name":"Bloom syndrome RecQ like helicase","omim_gene":["604610"],"alias_name":null,"gene_symbol":"BLM","hgnc_symbol":"BLM","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:91260558-91358859","ensembl_id":"ENSG00000197299"}},"GRch38":{"90":{"location":"15:90717327-90816165","ensembl_id":"ENSG00000197299"}}},"hgnc_date_symbol_changed":"1992-11-06"},"entity_type":"gene","entity_name":"BLM","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["11257107"],"evidence":["NHS GMS","Expert List","Expert Review Green","Expert list"],"phenotypes":["Bloom Syndrome","210900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":243,"hash_id":"55af539322c1fc78a9ef5052","name":"Tumour predisposition - childhood onset","disease_group":"Tumour syndromes","disease_sub_group":"Childhood Tumours","status":"public","version":"1.36","version_created":"2019-08-12T08:35:21.843722Z","relevant_disorders":["Paediatric congenital malformation-dysmorphism-tumour syndrome","Paediatric congenital malformation-dysmorphism-tumour syndromes","Paediatric congenital malformation-dysmorphism-tumour sydromes","Paediatric congenital malformation-dysmorphism-tumour syndrome","R359"],"stats":{"number_of_genes":113,"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 Cancer Germline Virtual","slug":"gms-cancer-germline-virtual","description":"This is a panel used for WGS germline analysis for the GMS."}]}},{"gene_data":{"alias":["BS","RECQL3","RECQ2"],"biotype":"protein_coding","hgnc_id":"HGNC:1058","gene_name":"Bloom syndrome RecQ like helicase","omim_gene":["604610"],"alias_name":null,"gene_symbol":"BLM","hgnc_symbol":"BLM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:91260558-91358859","ensembl_id":"ENSG00000197299"}},"GRch38":{"90":{"location":"15:90717327-90816165","ensembl_id":"ENSG00000197299"}}},"hgnc_date_symbol_changed":"1992-11-06"},"entity_type":"gene","entity_name":"BLM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["7585968","8231788","9482582","9285778","17407155"],"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":["Bloom syndrome, 210900","Immunodeficiency","Short stature, dysmorphic facies, sun-sensitive erythema, marrow failure, leukemia, lymphoma, chromosomal instability","Combined immunodeficiencies with associated or syndromic features"],"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":["BS","RECQL3","RECQ2"],"biotype":"protein_coding","hgnc_id":"HGNC:1058","gene_name":"Bloom syndrome RecQ like helicase","omim_gene":["604610"],"alias_name":null,"gene_symbol":"BLM","hgnc_symbol":"BLM","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:91260558-91358859","ensembl_id":"ENSG00000197299"}},"GRch38":{"90":{"location":"15:90717327-90816165","ensembl_id":"ENSG00000197299"}}},"hgnc_date_symbol_changed":"1992-11-06"},"entity_type":"gene","entity_name":"BLM","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["11257107"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Bloom Syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":259,"hash_id":"595cd7cc8f62036352471ea1","name":"Childhood solid tumours cancer susceptibility","disease_group":"Cancer Programme","disease_sub_group":"Pertinent cancer susceptibility gene panel","status":"public","version":"1.5","version_created":"2019-08-13T09:49:07.790050Z","relevant_disorders":["Childhood;Childhood solid tumours pertinent cancer susceptibility"],"stats":{"number_of_genes":83,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline 100K","slug":"cancer-germline-100k","description":"Cancer Germline 100K"}]}},{"gene_data":{"alias":["BS","RECQL3","RECQ2"],"biotype":"protein_coding","hgnc_id":"HGNC:1058","gene_name":"Bloom syndrome RecQ like helicase","omim_gene":["604610"],"alias_name":null,"gene_symbol":"BLM","hgnc_symbol":"BLM","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:91260558-91358859","ensembl_id":"ENSG00000197299"}},"GRch38":{"90":{"location":"15:90717327-90816165","ensembl_id":"ENSG00000197299"}}},"hgnc_date_symbol_changed":"1992-11-06"},"entity_type":"gene","entity_name":"BLM","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["28297620","Cancer Gene Census"],"evidence":["Expert Review Green","Curated sources"],"phenotypes":["Class: BM failure syndrome (typ AR)","Bloom syndrome","leukaemia","lymphoma","skin squamous cell","other tumour types","Lymphoma","ALL","MDS","AML","Leukaemia","Carcinomas"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":59,"hash_id":"594a71908f620375d17ea6b2","name":"Haematological malignancies cancer susceptibility","disease_group":"Cancer Programme","disease_sub_group":"Pertinent cancer susceptibility gene panel","status":"public","version":"1.19","version_created":"2019-08-06T10:21:26.792978Z","relevant_disorders":["Haemonc;Haematological malignancies pertinent cancer susceptibility"],"stats":{"number_of_genes":93,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline 100K","slug":"cancer-germline-100k","description":"Cancer Germline 100K"},{"name":"GMS Cancer Germline Virtual","slug":"gms-cancer-germline-virtual","description":"This is a panel used for WGS germline analysis for the GMS."}]}},{"gene_data":{"alias":["BS","RECQL3","RECQ2"],"biotype":"protein_coding","hgnc_id":"HGNC:1058","gene_name":"Bloom syndrome RecQ like helicase","omim_gene":["604610"],"alias_name":null,"gene_symbol":"BLM","hgnc_symbol":"BLM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:91260558-91358859","ensembl_id":"ENSG00000197299"}},"GRch38":{"90":{"location":"15:90717327-90816165","ensembl_id":"ENSG00000197299"}}},"hgnc_date_symbol_changed":"1992-11-06"},"entity_type":"gene","entity_name":"BLM","confidence_level":"0","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Removed"],"phenotypes":["Bloom syndrome"],"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."}]}},{"gene_data":{"alias":["BS","RECQL3","RECQ2"],"biotype":"protein_coding","hgnc_id":"HGNC:1058","gene_name":"Bloom syndrome RecQ like helicase","omim_gene":["604610"],"alias_name":null,"gene_symbol":"BLM","hgnc_symbol":"BLM","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:91260558-91358859","ensembl_id":"ENSG00000197299"}},"GRch38":{"90":{"location":"15:90717327-90816165","ensembl_id":"ENSG00000197299"}}},"hgnc_date_symbol_changed":"1992-11-06"},"entity_type":"gene","entity_name":"BLM","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["9285778","20301572"],"evidence":["NHS GMS","Expert Review Green","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services","Emory Genetics Laboratory","Other","Expert list"],"phenotypes":["MPD","microcephalic primordial dwarfism","Bloom syndrome, 210900","microcephaly"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":162,"hash_id":"568f860222c1fc1c79ca1769","name":"Severe microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"DNA repair disorders","status":"public","version":"1.72","version_created":"2019-08-19T16:58:29.143286Z","relevant_disorders":["Primary Microcephaly - Microcephalic Dwarfism Spectrum","Severe microcephaly"],"stats":{"number_of_genes":122,"number_of_strs":0,"number_of_regions":5},"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":["BS","RECQL3","RECQ2"],"biotype":"protein_coding","hgnc_id":"HGNC:1058","gene_name":"Bloom syndrome RecQ like helicase","omim_gene":["604610"],"alias_name":null,"gene_symbol":"BLM","hgnc_symbol":"BLM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:91260558-91358859","ensembl_id":"ENSG00000197299"}},"GRch38":{"90":{"location":"15:90717327-90816165","ensembl_id":"ENSG00000197299"}}},"hgnc_date_symbol_changed":"1992-11-06"},"entity_type":"gene","entity_name":"BLM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["North West GLH","Yorkshire and North East GLH","NHS GMS","Expert Review Green","Wessex and West Midlands GLH"],"phenotypes":["210900 Bloom syndrome","Bloom syndrome, 210900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":508,"hash_id":null,"name":"Confirmed Fanconi anaemia or Bloom syndrome","disease_group":"","disease_sub_group":"","status":"public","version":"1.0","version_created":"2019-09-23T14:19:05.632800Z","relevant_disorders":["R229"],"stats":{"number_of_genes":22,"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":["BS","RECQL3","RECQ2"],"biotype":"protein_coding","hgnc_id":"HGNC:1058","gene_name":"Bloom syndrome RecQ like helicase","omim_gene":["604610"],"alias_name":null,"gene_symbol":"BLM","hgnc_symbol":"BLM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:91260558-91358859","ensembl_id":"ENSG00000197299"}},"GRch38":{"90":{"location":"15:90717327-90816165","ensembl_id":"ENSG00000197299"}}},"hgnc_date_symbol_changed":"1992-11-06"},"entity_type":"gene","entity_name":"BLM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["PAGE DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["BLOOM SYNDROME"],"mode_of_inheritance":"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":["BS","RECQL3","RECQ2"],"biotype":"protein_coding","hgnc_id":"HGNC:1058","gene_name":"Bloom syndrome RecQ like helicase","omim_gene":["604610"],"alias_name":null,"gene_symbol":"BLM","hgnc_symbol":"BLM","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:91260558-91358859","ensembl_id":"ENSG00000197299"}},"GRch38":{"90":{"location":"15:90717327-90816165","ensembl_id":"ENSG00000197299"}}},"hgnc_date_symbol_changed":"1992-11-06"},"entity_type":"gene","entity_name":"BLM","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":["BS","RECQL3","RECQ2"],"biotype":"protein_coding","hgnc_id":"HGNC:1058","gene_name":"Bloom syndrome RecQ like helicase","omim_gene":["604610"],"alias_name":null,"gene_symbol":"BLM","hgnc_symbol":"BLM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:91260558-91358859","ensembl_id":"ENSG00000197299"}},"GRch38":{"90":{"location":"15:90717327-90816165","ensembl_id":"ENSG00000197299"}}},"hgnc_date_symbol_changed":"1992-11-06"},"entity_type":"gene","entity_name":"BLM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["BLOOM SYNDROME 210900"],"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":["BS","RECQL3","RECQ2"],"biotype":"protein_coding","hgnc_id":"HGNC:1058","gene_name":"Bloom syndrome RecQ like helicase","omim_gene":["604610"],"alias_name":null,"gene_symbol":"BLM","hgnc_symbol":"BLM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:91260558-91358859","ensembl_id":"ENSG00000197299"}},"GRch38":{"90":{"location":"15:90717327-90816165","ensembl_id":"ENSG00000197299"}}},"hgnc_date_symbol_changed":"1992-11-06"},"entity_type":"gene","entity_name":"BLM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert list","Expert Review Green"],"phenotypes":["210900 Bloom syndrome","Bloom syndrome, 210900","Bloom"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["BS","RECQL3","RECQ2"],"biotype":"protein_coding","hgnc_id":"HGNC:1058","gene_name":"Bloom syndrome RecQ like helicase","omim_gene":["604610"],"alias_name":null,"gene_symbol":"BLM","hgnc_symbol":"BLM","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:91260558-91358859","ensembl_id":"ENSG00000197299"}},"GRch38":{"90":{"location":"15:90717327-90816165","ensembl_id":"ENSG00000197299"}}},"hgnc_date_symbol_changed":"1992-11-06"},"entity_type":"gene","entity_name":"BLM","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen"],"phenotypes":["Bloom syndrome, 210900","BLOOM SYNDROME"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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"}]}},{"gene_data":{"alias":["BS","RECQL3","RECQ2"],"biotype":"protein_coding","hgnc_id":"HGNC:1058","gene_name":"Bloom syndrome RecQ like helicase","omim_gene":["604610"],"alias_name":null,"gene_symbol":"BLM","hgnc_symbol":"BLM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:91260558-91358859","ensembl_id":"ENSG00000197299"}},"GRch38":{"90":{"location":"15:90717327-90816165","ensembl_id":"ENSG00000197299"}}},"hgnc_date_symbol_changed":"1992-11-06"},"entity_type":"gene","entity_name":"BLM","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["28338660"],"evidence":["NHS GMS","Expert Review Amber","Expert list"],"phenotypes":["Bloom"],"mode_of_inheritance":"","tags":[],"panel":{"id":734,"hash_id":null,"name":"Sarcoma susceptibility","disease_group":"","disease_sub_group":"","status":"public","version":"0.10","version_created":"2019-08-06T10:07:36.980082Z","relevant_disorders":[],"stats":{"number_of_genes":42,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"GMS Cancer Germline Virtual","slug":"gms-cancer-germline-virtual","description":"This is a panel used for WGS germline analysis for the GMS."}]}}]}
