{"count":22,"next":null,"previous":null,"results":[{"gene_data":{"alias":["FAB","FLJ34064","FAAP95"],"biotype":"protein_coding","hgnc_id":"HGNC:3583","gene_name":"Fanconi anemia complementation group B","omim_gene":["300515"],"alias_name":null,"gene_symbol":"FANCB","hgnc_symbol":"FANCB","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:14861529-14891191","ensembl_id":"ENSG00000181544"}},"GRch38":{"90":{"location":"X:14843407-14873069","ensembl_id":"ENSG00000181544"}}},"hgnc_date_symbol_changed":"1998-08-26"},"entity_type":"gene","entity_name":"FANCB","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["15502827"],"evidence":["Expert Review Green","Expert list","Radboud University Medical Center, Nijmegen","Eligibility statement prior genetic testing","UKGTN","Emory Genetics Laboratory","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["VACTERL Association with Hydrocephalus","VACTERL-Hydrocephalus Syndrome","Vacterl Association, X-Linked, With Or Without Hydrocephalus","Fanconi Anemia, Complementation Group B","Fanconi anemia, complementation group B, 300514","Fanconi Anemia, X-Linked","Fanconi Anemia Type B"],"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":247,"hash_id":"5763f4588f620350a199604e","name":"Radial dysplasia","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","status":"public","version":"1.6","version_created":"2017-11-05T02:37:20.295815Z","relevant_disorders":[],"stats":{"number_of_genes":59,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["FAB","FLJ34064","FAAP95"],"biotype":"protein_coding","hgnc_id":"HGNC:3583","gene_name":"Fanconi anemia complementation group B","omim_gene":["300515"],"alias_name":null,"gene_symbol":"FANCB","hgnc_symbol":"FANCB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:14861529-14891191","ensembl_id":"ENSG00000181544"}},"GRch38":{"90":{"location":"X:14843407-14873069","ensembl_id":"ENSG00000181544"}}},"hgnc_date_symbol_changed":"1998-08-26"},"entity_type":"gene","entity_name":"FANCB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27881370","28297620"],"evidence":["Expert Review Green","Curated sources"],"phenotypes":["Class: BM failure FA, (typ AR)","Fanconi anemia","MDS","AML","Bone marrow failure","Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar"],"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":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":["FAB","FLJ34064","FAAP95"],"biotype":"protein_coding","hgnc_id":"HGNC:3583","gene_name":"Fanconi anemia complementation group B","omim_gene":["300515"],"alias_name":null,"gene_symbol":"FANCB","hgnc_symbol":"FANCB","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:14861529-14891191","ensembl_id":"ENSG00000181544"}},"GRch38":{"90":{"location":"X:14843407-14873069","ensembl_id":"ENSG00000181544"}}},"hgnc_date_symbol_changed":"1998-08-26"},"entity_type":"gene","entity_name":"FANCB","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["21910217"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Head and neck cancer"],"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":115,"hash_id":"596f86a58f620352d0e3eed3","name":"Head and neck cancer pertinent cancer susceptibility","disease_group":"Cancer Programme","disease_sub_group":"Pertinent cancer susceptibility gene panel","status":"public","version":"1.0","version_created":"2017-11-05T02:37:20.057839Z","relevant_disorders":["Nasopharyngeal","Oral Oropharyngeal","Sinonasal"],"stats":{"number_of_genes":12,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline 100K","slug":"cancer-germline-100k","description":"Cancer Germline 100K"}]}},{"gene_data":{"alias":["FAB","FLJ34064","FAAP95"],"biotype":"protein_coding","hgnc_id":"HGNC:3583","gene_name":"Fanconi anemia complementation group B","omim_gene":["300515"],"alias_name":null,"gene_symbol":"FANCB","hgnc_symbol":"FANCB","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:14861529-14891191","ensembl_id":"ENSG00000181544"}},"GRch38":{"90":{"location":"X:14843407-14873069","ensembl_id":"ENSG00000181544"}}},"hgnc_date_symbol_changed":"1998-08-26"},"entity_type":"gene","entity_name":"FANCB","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert review"],"phenotypes":["Fanconi anemia","Fanconi anemia, complementation group B, 300514","Fanconi Anemia, X-Linked","VACTERL Association with Hydrocephalus"],"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":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":["FAB","FLJ34064","FAAP95"],"biotype":"protein_coding","hgnc_id":"HGNC:3583","gene_name":"Fanconi anemia complementation group B","omim_gene":["300515"],"alias_name":null,"gene_symbol":"FANCB","hgnc_symbol":"FANCB","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:14861529-14891191","ensembl_id":"ENSG00000181544"}},"GRch38":{"90":{"location":"X:14843407-14873069","ensembl_id":"ENSG00000181544"}}},"hgnc_date_symbol_changed":"1998-08-26"},"entity_type":"gene","entity_name":"FANCB","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["15502827"],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services","UKGTN","Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen"],"phenotypes":["Fanconi anemia, complementation group B, 300514","Fanconi Anemia, X-Linked","Fanconi Anemia Type B","Fanconi Anaemia"],"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":255,"hash_id":"57c5b45b8f62030d5014a949","name":"Neurofibromatosis Type 1","disease_group":"Tumour syndromes","disease_sub_group":"Muscle and nerve","status":"public","version":"1.26","version_created":"2019-06-20T15:13:27.332971Z","relevant_disorders":[],"stats":{"number_of_genes":30,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["FAB","FLJ34064","FAAP95"],"biotype":"protein_coding","hgnc_id":"HGNC:3583","gene_name":"Fanconi anemia complementation group B","omim_gene":["300515"],"alias_name":null,"gene_symbol":"FANCB","hgnc_symbol":"FANCB","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:14861529-14891191","ensembl_id":"ENSG00000181544"}},"GRch38":{"90":{"location":"X:14843407-14873069","ensembl_id":"ENSG00000181544"}}},"hgnc_date_symbol_changed":"1998-08-26"},"entity_type":"gene","entity_name":"FANCB","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","UKGTN","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["VACTERL Association with Hydrocephalus"],"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":101,"hash_id":"553f9598bb5a1616e5ed45ae","name":"VACTERL-like phenotypes","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Limb disorders","status":"public","version":"1.24","version_created":"2019-06-20T15:15:18.221805Z","relevant_disorders":[],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["FAB","FLJ34064","FAAP95"],"biotype":"protein_coding","hgnc_id":"HGNC:3583","gene_name":"Fanconi anemia complementation group B","omim_gene":["300515"],"alias_name":null,"gene_symbol":"FANCB","hgnc_symbol":"FANCB","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:14861529-14891191","ensembl_id":"ENSG00000181544"}},"GRch38":{"90":{"location":"X:14843407-14873069","ensembl_id":"ENSG00000181544"}}},"hgnc_date_symbol_changed":"1998-08-26"},"entity_type":"gene","entity_name":"FANCB","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["21910217","15502827"],"evidence":["NHS GMS","Expert Review Green","UKGTN","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["VACTERL Association with Hydrocephalus","Vacterl Association, X-Linked, With Or Without Hydrocephalus","VACTERLX","Fanconi anemia, complementation group B 300514"],"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":179,"hash_id":"5763f35c8f620350a22bccdf","name":"Hydrocephalus","disease_group":"","disease_sub_group":"","status":"public","version":"1.38","version_created":"2019-09-30T12:37:55.307389Z","relevant_disorders":["Hydrocephalus;R86"],"stats":{"number_of_genes":98,"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":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["FAB","FLJ34064","FAAP95"],"biotype":"protein_coding","hgnc_id":"HGNC:3583","gene_name":"Fanconi anemia complementation group B","omim_gene":["300515"],"alias_name":null,"gene_symbol":"FANCB","hgnc_symbol":"FANCB","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:14861529-14891191","ensembl_id":"ENSG00000181544"}},"GRch38":{"90":{"location":"X:14843407-14873069","ensembl_id":"ENSG00000181544"}}},"hgnc_date_symbol_changed":"1998-08-26"},"entity_type":"gene","entity_name":"FANCB","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert List","Expert Review Green","UKGTN","Emory Genetics Laboratory","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen"],"phenotypes":["Fanconi Anemia, Complementation Group C","Fanconi Anemia Type B","Fanconi Anemia, X-Linked","Fanconi anemia, complementation group B, 300514"],"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":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":["FAB","FLJ34064","FAAP95"],"biotype":"protein_coding","hgnc_id":"HGNC:3583","gene_name":"Fanconi anemia complementation group B","omim_gene":["300515"],"alias_name":null,"gene_symbol":"FANCB","hgnc_symbol":"FANCB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:14861529-14891191","ensembl_id":"ENSG00000181544"}},"GRch38":{"90":{"location":"X:14843407-14873069","ensembl_id":"ENSG00000181544"}}},"hgnc_date_symbol_changed":"1998-08-26"},"entity_type":"gene","entity_name":"FANCB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["15502827"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Fanconi anemia, complementation group B, 300514","VACTERL Association with Hydrocephalus","Vacterl Association, X-Linked, With Or Without Hydrocephalus","Fanconi Anemia, Complementation Group B","VACTERL-Hydrocephalus Syndrome","Fanconi Anemia, X-Linked","Radial Ray abnormality","Fanconi Anemia Type B"],"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":384,"hash_id":null,"name":"Limb disorders","disease_group":"","disease_sub_group":"","status":"public","version":"1.61","version_created":"2019-10-03T10:01:34.398179Z","relevant_disorders":[],"stats":{"number_of_genes":234,"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":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["FAB","FLJ34064","FAAP95"],"biotype":"protein_coding","hgnc_id":"HGNC:3583","gene_name":"Fanconi anemia complementation group B","omim_gene":["300515"],"alias_name":null,"gene_symbol":"FANCB","hgnc_symbol":"FANCB","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:14861529-14891191","ensembl_id":"ENSG00000181544"}},"GRch38":{"90":{"location":"X:14843407-14873069","ensembl_id":"ENSG00000181544"}}},"hgnc_date_symbol_changed":"1998-08-26"},"entity_type":"gene","entity_name":"FANCB","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory","UKGTN","Expert list","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Falcon anemia","Fanconi anemia, complementation group B, 300514","Fanconi Anemia, X-Linked","Fanconi Anemia Type B","Fanconi Anaemia"],"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":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":["FAB","FLJ34064","FAAP95"],"biotype":"protein_coding","hgnc_id":"HGNC:3583","gene_name":"Fanconi anemia complementation group B","omim_gene":["300515"],"alias_name":null,"gene_symbol":"FANCB","hgnc_symbol":"FANCB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:14861529-14891191","ensembl_id":"ENSG00000181544"}},"GRch38":{"90":{"location":"X:14843407-14873069","ensembl_id":"ENSG00000181544"}}},"hgnc_date_symbol_changed":"1998-08-26"},"entity_type":"gene","entity_name":"FANCB","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber"],"phenotypes":["Fanconi anemia, complementation group B, 300514"],"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":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":["FAB","FLJ34064","FAAP95"],"biotype":"protein_coding","hgnc_id":"HGNC:3583","gene_name":"Fanconi anemia complementation group B","omim_gene":["300515"],"alias_name":null,"gene_symbol":"FANCB","hgnc_symbol":"FANCB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:14861529-14891191","ensembl_id":"ENSG00000181544"}},"GRch38":{"90":{"location":"X:14843407-14873069","ensembl_id":"ENSG00000181544"}}},"hgnc_date_symbol_changed":"1998-08-26"},"entity_type":"gene","entity_name":"FANCB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["Fanconi anemia, complementation group B, 300514"],"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":245,"hash_id":"595ce30f8f62036352471f39","name":"Adult solid tumours cancer susceptibility","disease_group":"Cancer Programme","disease_sub_group":"Pertinent cancer susceptibility gene panel","status":"public","version":"1.7","version_created":"2019-08-13T09:55:08.772098Z","relevant_disorders":["Carcinoma of unknown primary","Other","Adult solid tumours pertinent cancer susceptibility"],"stats":{"number_of_genes":103,"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":["FAB","FLJ34064","FAAP95"],"biotype":"protein_coding","hgnc_id":"HGNC:3583","gene_name":"Fanconi anemia complementation group B","omim_gene":["300515"],"alias_name":null,"gene_symbol":"FANCB","hgnc_symbol":"FANCB","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:14861529-14891191","ensembl_id":"ENSG00000181544"}},"GRch38":{"90":{"location":"X:14843407-14873069","ensembl_id":"ENSG00000181544"}}},"hgnc_date_symbol_changed":"1998-08-26"},"entity_type":"gene","entity_name":"FANCB","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27881370","28297620"],"evidence":["Expert Review Green","Curated sources"],"phenotypes":["Class: BM failure FA, (typ AR)","Fanconi anemia","MDS","AML","Bone marrow failure","Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar"],"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":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":["FAB","FLJ34064","FAAP95"],"biotype":"protein_coding","hgnc_id":"HGNC:3583","gene_name":"Fanconi anemia complementation group B","omim_gene":["300515"],"alias_name":null,"gene_symbol":"FANCB","hgnc_symbol":"FANCB","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:14861529-14891191","ensembl_id":"ENSG00000181544"}},"GRch38":{"90":{"location":"X:14843407-14873069","ensembl_id":"ENSG00000181544"}}},"hgnc_date_symbol_changed":"1998-08-26"},"entity_type":"gene","entity_name":"FANCB","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Other","Expert Review Green"],"phenotypes":["Fanconi anemia, complementation group B, 300514"],"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":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":["FAB","FLJ34064","FAAP95"],"biotype":"protein_coding","hgnc_id":"HGNC:3583","gene_name":"Fanconi anemia complementation group B","omim_gene":["300515"],"alias_name":null,"gene_symbol":"FANCB","hgnc_symbol":"FANCB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:14861529-14891191","ensembl_id":"ENSG00000181544"}},"GRch38":{"90":{"location":"X:14843407-14873069","ensembl_id":"ENSG00000181544"}}},"hgnc_date_symbol_changed":"1998-08-26"},"entity_type":"gene","entity_name":"FANCB","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","NHS GMS"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":549,"hash_id":null,"name":"Laterality disorders and isomerism","disease_group":"","disease_sub_group":"","status":"public","version":"0.51","version_created":"2019-09-27T19:31:06.459183Z","relevant_disorders":["R139"],"stats":{"number_of_genes":56,"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":["FAB","FLJ34064","FAAP95"],"biotype":"protein_coding","hgnc_id":"HGNC:3583","gene_name":"Fanconi anemia complementation group B","omim_gene":["300515"],"alias_name":null,"gene_symbol":"FANCB","hgnc_symbol":"FANCB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:14861529-14891191","ensembl_id":"ENSG00000181544"}},"GRch38":{"90":{"location":"X:14843407-14873069","ensembl_id":"ENSG00000181544"}}},"hgnc_date_symbol_changed":"1998-08-26"},"entity_type":"gene","entity_name":"FANCB","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":["Falcon anemia","Fanconi Anemia Type B","300514 Fanconi anemia, complementation group B","Fanconi Anemia, X-Linked","Fanconi Anaemia","Fanconi anemia, complementation group B, 300514"],"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":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":["FAB","FLJ34064","FAAP95"],"biotype":"protein_coding","hgnc_id":"HGNC:3583","gene_name":"Fanconi anemia complementation group B","omim_gene":["300515"],"alias_name":null,"gene_symbol":"FANCB","hgnc_symbol":"FANCB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:14861529-14891191","ensembl_id":"ENSG00000181544"}},"GRch38":{"90":{"location":"X:14843407-14873069","ensembl_id":"ENSG00000181544"}}},"hgnc_date_symbol_changed":"1998-08-26"},"entity_type":"gene","entity_name":"FANCB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29232005","24416387","26683739"],"evidence":["Expert Review Green","Expert list","UKGTN","Literature","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Vacterl Association, X-Linked, With Or Without Hydrocephalus","anorectal malformation","VACTERL Association with Hydrocephalus","Fanconi anemia, complementation group B 300514","FANCB-RELATED FANCONI ANEMIA"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":253,"hash_id":"576cd7e38f62036097d6cc9c","name":"Non-syndromic familial congenital anorectal malformations","disease_group":"Gastroenterological disorders","disease_sub_group":"Gastrointestinal disorders","status":"public","version":"1.5","version_created":"2019-06-20T15:15:14.416374Z","relevant_disorders":[],"stats":{"number_of_genes":51,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["FAB","FLJ34064","FAAP95"],"biotype":"protein_coding","hgnc_id":"HGNC:3583","gene_name":"Fanconi anemia complementation group B","omim_gene":["300515"],"alias_name":null,"gene_symbol":"FANCB","hgnc_symbol":"FANCB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:14861529-14891191","ensembl_id":"ENSG00000181544"}},"GRch38":{"90":{"location":"X:14843407-14873069","ensembl_id":"ENSG00000181544"}}},"hgnc_date_symbol_changed":"1998-08-26"},"entity_type":"gene","entity_name":"FANCB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28425981"],"evidence":["PAGE DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["FANCB-RELATED FANCONI ANEMIA"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["FAB","FLJ34064","FAAP95"],"biotype":"protein_coding","hgnc_id":"HGNC:3583","gene_name":"Fanconi anemia complementation group B","omim_gene":["300515"],"alias_name":null,"gene_symbol":"FANCB","hgnc_symbol":"FANCB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:14861529-14891191","ensembl_id":"ENSG00000181544"}},"GRch38":{"90":{"location":"X:14843407-14873069","ensembl_id":"ENSG00000181544"}}},"hgnc_date_symbol_changed":"1998-08-26"},"entity_type":"gene","entity_name":"FANCB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["FANCB-RELATED FANCONI ANEMIA 229139"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["FAB","FLJ34064","FAAP95"],"biotype":"protein_coding","hgnc_id":"HGNC:3583","gene_name":"Fanconi anemia complementation group B","omim_gene":["300515"],"alias_name":null,"gene_symbol":"FANCB","hgnc_symbol":"FANCB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:14861529-14891191","ensembl_id":"ENSG00000181544"}},"GRch38":{"90":{"location":"X:14843407-14873069","ensembl_id":"ENSG00000181544"}}},"hgnc_date_symbol_changed":"1998-08-26"},"entity_type":"gene","entity_name":"FANCB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["Fanconi Anemia Type B","VACTERL Association with Hydrocephalus","300514 Fanconi anemia, complementation group B","Fanconi Anemia, X-Linked","Fanconi Anaemia","Fanconi anemia","Falcon anemia","Fanconi anemia, complementation group B, 300514"],"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":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":["FAB","FLJ34064","FAAP95"],"biotype":"protein_coding","hgnc_id":"HGNC:3583","gene_name":"Fanconi anemia complementation group B","omim_gene":["300515"],"alias_name":null,"gene_symbol":"FANCB","hgnc_symbol":"FANCB","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:14861529-14891191","ensembl_id":"ENSG00000181544"}},"GRch38":{"90":{"location":"X:14843407-14873069","ensembl_id":"ENSG00000181544"}}},"hgnc_date_symbol_changed":"1998-08-26"},"entity_type":"gene","entity_name":"FANCB","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["21910217","16679491"],"evidence":["Victorian Clinical Genetics Services","Expert Review Red","Expert Review Red","Emory Genetics Laboratory"],"phenotypes":["Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome"],"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":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":["FAB","FLJ34064","FAAP95"],"biotype":"protein_coding","hgnc_id":"HGNC:3583","gene_name":"Fanconi anemia complementation group B","omim_gene":["300515"],"alias_name":null,"gene_symbol":"FANCB","hgnc_symbol":"FANCB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:14861529-14891191","ensembl_id":"ENSG00000181544"}},"GRch38":{"90":{"location":"X:14843407-14873069","ensembl_id":"ENSG00000181544"}}},"hgnc_date_symbol_changed":"1998-08-26"},"entity_type":"gene","entity_name":"FANCB","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Expert review red","Literature"],"phenotypes":["Congenital or cystic renal disease","Fanconi anemia complementation group B","MIM 300514"],"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":720,"hash_id":null,"name":"Groopman et al 2019 - Genes with diagnostic variants","disease_group":"","disease_sub_group":"","status":"public","version":"0.8","version_created":"2019-07-09T15:48:14.145108Z","relevant_disorders":[],"stats":{"number_of_genes":66,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Submitted List","slug":"submitted-list","description":"Original list, ratings, comments submitted to PanelApp- generally used for the creation of reference GMS panels, these panels  should be internal only"}]}}]}