{"count":23,"next":null,"previous":null,"results":[{"gene_data":{"alias":["TRT","TP2","TCS1","hEST2","EST2"],"biotype":"protein_coding","hgnc_id":"HGNC:11730","gene_name":"telomerase reverse transcriptase","omim_gene":["187270"],"alias_name":null,"gene_symbol":"TERT","hgnc_symbol":"TERT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:1253262-1295184","ensembl_id":"ENSG00000164362"}},"GRch38":{"90":{"location":"5:1253147-1295069","ensembl_id":"ENSG00000164362"}}},"hgnc_date_symbol_changed":"1998-01-21"},"entity_type":"gene","entity_name":"TERT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27881370","28297620"],"evidence":["Expert Review Green","Curated sources"],"phenotypes":["Class: BM failure syndrome (typ AR)","Dyskeratosis congenita","MDS, AML","Bone marrow failure, macrocytosis","Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma"],"mode_of_inheritance":"BOTH monoallelic and 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":["TRT","TP2","TCS1","hEST2","EST2"],"biotype":"protein_coding","hgnc_id":"HGNC:11730","gene_name":"telomerase reverse transcriptase","omim_gene":["187270"],"alias_name":null,"gene_symbol":"TERT","hgnc_symbol":"TERT","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:1253262-1295184","ensembl_id":"ENSG00000164362"}},"GRch38":{"90":{"location":"5:1253147-1295069","ensembl_id":"ENSG00000164362"}}},"hgnc_date_symbol_changed":"1998-01-21"},"entity_type":"gene","entity_name":"TERT","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["20301408","17392301"],"evidence":["Expert Review Green","Eligibility statement prior genetic testing","Emory Genetics Laboratory","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen"],"phenotypes":["{Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742","Familial Pulmonary Fibrosis","Pulmonary Fibrosis and Hermansky-Pudlak Syndrome","Pulmonary Disease"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":200,"hash_id":"563259de22c1fc58285b2840","name":"Familial pulmonary fibrosis","disease_group":"Respiratory disorders","disease_sub_group":"Interstitial lung disorders","status":"public","version":"1.6","version_created":"2019-08-20T14:18:14.336659Z","relevant_disorders":[],"stats":{"number_of_genes":71,"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."}]}},{"gene_data":{"alias":["TRT","TP2","TCS1","hEST2","EST2"],"biotype":"protein_coding","hgnc_id":"HGNC:11730","gene_name":"telomerase reverse transcriptase","omim_gene":["187270"],"alias_name":null,"gene_symbol":"TERT","hgnc_symbol":"TERT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:1253262-1295184","ensembl_id":"ENSG00000164362"}},"GRch38":{"90":{"location":"5:1253147-1295069","ensembl_id":"ENSG00000164362"}}},"hgnc_date_symbol_changed":"1998-01-21"},"entity_type":"gene","entity_name":"TERT","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["17785587","16247010"],"evidence":["Expert Review Amber"],"phenotypes":["dyskeratosis congenita-2"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":477,"hash_id":null,"name":"Ataxia and cerebellar anomalies - narrow panel","disease_group":"","disease_sub_group":"","status":"public","version":"1.7","version_created":"2019-09-20T16:56:48.672242Z","relevant_disorders":[],"stats":{"number_of_genes":199,"number_of_strs":13,"number_of_regions":3},"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":["TRT","TP2","TCS1","hEST2","EST2"],"biotype":"protein_coding","hgnc_id":"HGNC:11730","gene_name":"telomerase reverse transcriptase","omim_gene":["187270"],"alias_name":null,"gene_symbol":"TERT","hgnc_symbol":"TERT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:1253262-1295184","ensembl_id":"ENSG00000164362"}},"GRch38":{"90":{"location":"5:1253147-1295069","ensembl_id":"ENSG00000164362"}}},"hgnc_date_symbol_changed":"1998-01-21"},"entity_type":"gene","entity_name":"TERT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22965356","22285015"],"evidence":["NHS GMS","Expert Review Green","Expert List"],"phenotypes":["{Dyskeratosis congenita, autosomal recessive 4}, 613989","{Dyskeratosis congenita, autosomal dominant 2}, 613989"],"mode_of_inheritance":"BOTH monoallelic and 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":["TRT","TP2","TCS1","hEST2","EST2"],"biotype":"protein_coding","hgnc_id":"HGNC:11730","gene_name":"telomerase reverse transcriptase","omim_gene":["187270"],"alias_name":null,"gene_symbol":"TERT","hgnc_symbol":"TERT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:1253262-1295184","ensembl_id":"ENSG00000164362"}},"GRch38":{"90":{"location":"5:1253147-1295069","ensembl_id":"ENSG00000164362"}}},"hgnc_date_symbol_changed":"1998-01-21"},"entity_type":"gene","entity_name":"TERT","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["23348503"],"evidence":["Expert Review Amber","NHS GMS","Expert List"],"phenotypes":[],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":522,"hash_id":null,"name":"Familial melanoma","disease_group":"","disease_sub_group":"","status":"public","version":"1.0","version_created":"2019-08-16T10:02:44.576997Z","relevant_disorders":["R254"],"stats":{"number_of_genes":8,"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":["TRT","TP2","TCS1","hEST2","EST2"],"biotype":"protein_coding","hgnc_id":"HGNC:11730","gene_name":"telomerase reverse transcriptase","omim_gene":["187270"],"alias_name":null,"gene_symbol":"TERT","hgnc_symbol":"TERT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:1253262-1295184","ensembl_id":"ENSG00000164362"}},"GRch38":{"90":{"location":"5:1253147-1295069","ensembl_id":"ENSG00000164362"}}},"hgnc_date_symbol_changed":"1998-01-21"},"entity_type":"gene","entity_name":"TERT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Melanoma","Dyskeratosis congenita"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":559,"hash_id":null,"name":"Pigmentary skin disorders","disease_group":"","disease_sub_group":"","status":"public","version":"0.15","version_created":"2019-09-17T17:51:23.014209Z","relevant_disorders":[],"stats":{"number_of_genes":102,"number_of_strs":0,"number_of_regions":1},"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":["TRT","TP2","TCS1","hEST2","EST2"],"biotype":"protein_coding","hgnc_id":"HGNC:11730","gene_name":"telomerase reverse transcriptase","omim_gene":["187270"],"alias_name":null,"gene_symbol":"TERT","hgnc_symbol":"TERT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:1253262-1295184","ensembl_id":"ENSG00000164362"}},"GRch38":{"90":{"location":"5:1253147-1295069","ensembl_id":"ENSG00000164362"}}},"hgnc_date_symbol_changed":"1998-01-21"},"entity_type":"gene","entity_name":"TERT","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["21436073","19936245","21483807"],"evidence":["NHS GMS","Expert Review Amber","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["{Dyskeratosis congenita, autosomal dominant 2} (613989)","{Dyskeratosis congenita, autosomal recessive 4} (613989)"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":209,"hash_id":"58c8066b8f6203413360f1cf","name":"Ductal plate malformation","disease_group":"","disease_sub_group":"","status":"public","version":"1.10","version_created":"2019-06-20T15:10:58.988548Z","relevant_disorders":["Ductal plate malformation (DPM)","Polycystic liver disease"],"stats":{"number_of_genes":150,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["TRT","TP2","TCS1","hEST2","EST2"],"biotype":"protein_coding","hgnc_id":"HGNC:11730","gene_name":"telomerase reverse transcriptase","omim_gene":["187270"],"alias_name":null,"gene_symbol":"TERT","hgnc_symbol":"TERT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:1253262-1295184","ensembl_id":"ENSG00000164362"}},"GRch38":{"90":{"location":"5:1253147-1295069","ensembl_id":"ENSG00000164362"}}},"hgnc_date_symbol_changed":"1998-01-21"},"entity_type":"gene","entity_name":"TERT","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["21436073","19936245","21483807"],"evidence":["Expert Review Amber","NHS GMS","NHS GMS","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["{Dyskeratosis congenita, autosomal dominant 2} (613989)","{Dyskeratosis congenita, autosomal recessive 4} (613989)"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":653,"hash_id":null,"name":"Polycystic liver disease interim","disease_group":"","disease_sub_group":"","status":"public","version":"0.8","version_created":"2019-09-06T07:26:59.856722Z","relevant_disorders":["R173"],"stats":{"number_of_genes":20,"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":["TRT","TP2","TCS1","hEST2","EST2"],"biotype":"protein_coding","hgnc_id":"HGNC:11730","gene_name":"telomerase reverse transcriptase","omim_gene":["187270"],"alias_name":null,"gene_symbol":"TERT","hgnc_symbol":"TERT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:1253262-1295184","ensembl_id":"ENSG00000164362"}},"GRch38":{"90":{"location":"5:1253147-1295069","ensembl_id":"ENSG00000164362"}}},"hgnc_date_symbol_changed":"1998-01-21"},"entity_type":"gene","entity_name":"TERT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23926458","28600339","30466750","27895058","27069254"],"evidence":["Expert Review Green","North West GLH","Yorkshire and North East GLH","NHS GMS","Wessex and West Midlands GLH"],"phenotypes":["601626 {Leukemia, acute myeloid}","187270 (OMIN gene description ID)","187270 / 601626 {Leukemia, acute myeloid}","Dyskeratosis congenita, autosomal dominant 2, 613989","Dyskeratosis congenita, autosomal recessive 4, 613989","Leukemia, acute myeloid} 601626","Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, 614742"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":525,"hash_id":null,"name":"Inherited predisposition to acute myeloid leukaemia (AML)","disease_group":"","disease_sub_group":"","status":"public","version":"1.0","version_created":"2019-09-23T13:06:38.692384Z","relevant_disorders":["R347"],"stats":{"number_of_genes":14,"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":["TRT","TP2","TCS1","hEST2","EST2"],"biotype":"protein_coding","hgnc_id":"HGNC:11730","gene_name":"telomerase reverse transcriptase","omim_gene":["187270"],"alias_name":null,"gene_symbol":"TERT","hgnc_symbol":"TERT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:1253262-1295184","ensembl_id":"ENSG00000164362"}},"GRch38":{"90":{"location":"5:1253147-1295069","ensembl_id":"ENSG00000164362"}}},"hgnc_date_symbol_changed":"1998-01-21"},"entity_type":"gene","entity_name":"TERT","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["16247010","18460650","15885610","17785587"],"evidence":["Expert Review Amber","IUIS Classification February 2018","Victorian Clinical Genetics Services","ESID Registry 20171117","GRID V2.0"],"phenotypes":["Dyskeratosis congenita 2 613989, Dyskeratosis congenita 4 613989","Dyskeratosis congenita","Hoyeraal-Hreidarsson syndrome","Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients","Combined immunodeficiencies with associated or syndromic features"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["missense"],"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":["TRT","TP2","TCS1","hEST2","EST2"],"biotype":"protein_coding","hgnc_id":"HGNC:11730","gene_name":"telomerase reverse transcriptase","omim_gene":["187270"],"alias_name":null,"gene_symbol":"TERT","hgnc_symbol":"TERT","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:1253262-1295184","ensembl_id":"ENSG00000164362"}},"GRch38":{"90":{"location":"5:1253147-1295069","ensembl_id":"ENSG00000164362"}}},"hgnc_date_symbol_changed":"1998-01-21"},"entity_type":"gene","entity_name":"TERT","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["15885610","19179534","15814878"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","Expert list","Eligibility statement prior genetic testing","Illumina TruGenome Clinical Sequencing Services","UKGTN"],"phenotypes":["Aplastic Anemia","Coronary artery disease","{Dyskeratosis congenita, autosomal recessive 4}, 613989","{Dyskeratosis congenita, autosomal dominant 2}, 613989","{Pulmonary fibrosis, telomere-related, 1}, 614742","{Leukemia, acute myeloid}, 601626","{Melanoma, cutaneous malignant, 9}, 615134"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","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":["TRT","TP2","TCS1","hEST2","EST2"],"biotype":"protein_coding","hgnc_id":"HGNC:11730","gene_name":"telomerase reverse transcriptase","omim_gene":["187270"],"alias_name":null,"gene_symbol":"TERT","hgnc_symbol":"TERT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:1253262-1295184","ensembl_id":"ENSG00000164362"}},"GRch38":{"90":{"location":"5:1253147-1295069","ensembl_id":"ENSG00000164362"}}},"hgnc_date_symbol_changed":"1998-01-21"},"entity_type":"gene","entity_name":"TERT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Melanoma","Dyskeratosis congenita"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":564,"hash_id":null,"name":"Mosaic skin disorders - deep sequencing","disease_group":"","disease_sub_group":"","status":"public","version":"0.13","version_created":"2019-09-09T15:38:42.362892Z","relevant_disorders":[],"stats":{"number_of_genes":39,"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":["TRT","TP2","TCS1","hEST2","EST2"],"biotype":"protein_coding","hgnc_id":"HGNC:11730","gene_name":"telomerase reverse transcriptase","omim_gene":["187270"],"alias_name":null,"gene_symbol":"TERT","hgnc_symbol":"TERT","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:1253262-1295184","ensembl_id":"ENSG00000164362"}},"GRch38":{"90":{"location":"5:1253147-1295069","ensembl_id":"ENSG00000164362"}}},"hgnc_date_symbol_changed":"1998-01-21"},"entity_type":"gene","entity_name":"TERT","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["22965356"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Dynkeratosis Congenita"],"mode_of_inheritance":"BOTH monoallelic and 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":["TRT","TP2","TCS1","hEST2","EST2"],"biotype":"protein_coding","hgnc_id":"HGNC:11730","gene_name":"telomerase reverse transcriptase","omim_gene":["187270"],"alias_name":null,"gene_symbol":"TERT","hgnc_symbol":"TERT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:1253262-1295184","ensembl_id":"ENSG00000164362"}},"GRch38":{"90":{"location":"5:1253147-1295069","ensembl_id":"ENSG00000164362"}}},"hgnc_date_symbol_changed":"1998-01-21"},"entity_type":"gene","entity_name":"TERT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22285015"],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["{Dyskeratosis congenita, autosomal recessive 4}, 613989","{Dyskeratosis congenita, autosomal dominant 2}, 613989"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","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":["TRT","TP2","TCS1","hEST2","EST2"],"biotype":"protein_coding","hgnc_id":"HGNC:11730","gene_name":"telomerase reverse transcriptase","omim_gene":["187270"],"alias_name":null,"gene_symbol":"TERT","hgnc_symbol":"TERT","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:1253262-1295184","ensembl_id":"ENSG00000164362"}},"GRch38":{"90":{"location":"5:1253147-1295069","ensembl_id":"ENSG00000164362"}}},"hgnc_date_symbol_changed":"1998-01-21"},"entity_type":"gene","entity_name":"TERT","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27881370","28297620"],"evidence":["Expert Review Green","Curated sources"],"phenotypes":["Class: BM failure syndrome (typ AR)","Dyskeratosis congenita","MDS, AML","Bone marrow failure, macrocytosis","Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma"],"mode_of_inheritance":"BOTH monoallelic and 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":["TRT","TP2","TCS1","hEST2","EST2"],"biotype":"protein_coding","hgnc_id":"HGNC:11730","gene_name":"telomerase reverse transcriptase","omim_gene":["187270"],"alias_name":null,"gene_symbol":"TERT","hgnc_symbol":"TERT","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:1253262-1295184","ensembl_id":"ENSG00000164362"}},"GRch38":{"90":{"location":"5:1253147-1295069","ensembl_id":"ENSG00000164362"}}},"hgnc_date_symbol_changed":"1998-01-21"},"entity_type":"gene","entity_name":"TERT","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":["17785587","16247010"],"evidence":["Literature","UKGTN","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["dyskeratosis congenita-2"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":286,"hash_id":"568f871422c1fc1c79ca176d","name":"Cerebellar hypoplasia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor Disorders of the CNS","status":"public","version":"1.39","version_created":"2019-10-07T10:30:38.401018Z","relevant_disorders":["Cerebellar Hypoplasia","Pontine tegmental cap dysplasia"],"stats":{"number_of_genes":66,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["TRT","TP2","TCS1","hEST2","EST2"],"biotype":"protein_coding","hgnc_id":"HGNC:11730","gene_name":"telomerase reverse transcriptase","omim_gene":["187270"],"alias_name":null,"gene_symbol":"TERT","hgnc_symbol":"TERT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:1253262-1295184","ensembl_id":"ENSG00000164362"}},"GRch38":{"90":{"location":"5:1253147-1295069","ensembl_id":"ENSG00000164362"}}},"hgnc_date_symbol_changed":"1998-01-21"},"entity_type":"gene","entity_name":"TERT","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","NHS GMS"],"phenotypes":[],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":551,"hash_id":null,"name":"Surfactant deficiency","disease_group":"","disease_sub_group":"","status":"public","version":"0.28","version_created":"2019-09-04T16:26:46.384759Z","relevant_disorders":["R192"],"stats":{"number_of_genes":8,"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":["TRT","TP2","TCS1","hEST2","EST2"],"biotype":"protein_coding","hgnc_id":"HGNC:11730","gene_name":"telomerase reverse transcriptase","omim_gene":["187270"],"alias_name":null,"gene_symbol":"TERT","hgnc_symbol":"TERT","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:1253262-1295184","ensembl_id":"ENSG00000164362"}},"GRch38":{"90":{"location":"5:1253147-1295069","ensembl_id":"ENSG00000164362"}}},"hgnc_date_symbol_changed":"1998-01-21"},"entity_type":"gene","entity_name":"TERT","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green","Illumina TruGenome Clinical Sequencing Services","Expert list","UKGTN",""],"phenotypes":["Dyskeratosis congenita, autosomal dominant 2 and autosomal recessive 4 613989"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":309,"hash_id":"5693952f22c1fc251660fb1e","name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","status":"public","version":"1.203","version_created":"2019-10-03T09:38:50.417968Z","relevant_disorders":["Unexplained skeletal dysplasia","Skeletal dysplasia"],"stats":{"number_of_genes":546,"number_of_strs":1,"number_of_regions":6},"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":["TRT","TP2","TCS1","hEST2","EST2"],"biotype":"protein_coding","hgnc_id":"HGNC:11730","gene_name":"telomerase reverse transcriptase","omim_gene":["187270"],"alias_name":null,"gene_symbol":"TERT","hgnc_symbol":"TERT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:1253262-1295184","ensembl_id":"ENSG00000164362"}},"GRch38":{"90":{"location":"5:1253147-1295069","ensembl_id":"ENSG00000164362"}}},"hgnc_date_symbol_changed":"1998-01-21"},"entity_type":"gene","entity_name":"TERT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21436073","18460650","18042801"],"evidence":["Expert Review Green","North West GLH","Yorkshire and North East GLH","London South GLH","NHS GMS","Wessex and West Midlands GLH"],"phenotypes":["{Pulmonary fibrosis, telomere-related, 1}, 614742","{Dyskeratosis congenita, autosomal dominant 2}, 613989","Coronary artery disease","{Melanoma, cutaneous malignant, 9}, 615134","614742 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1","Aplastic Anemia","614742 {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}","{Leukemia, acute myeloid}, 601626","613989 Dyskeratosis congenita","{Dyskeratosis congenita, autosomal recessive 4}, 613989"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","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":["TRT","TP2","TCS1","hEST2","EST2"],"biotype":"protein_coding","hgnc_id":"HGNC:11730","gene_name":"telomerase reverse transcriptase","omim_gene":["187270"],"alias_name":null,"gene_symbol":"TERT","hgnc_symbol":"TERT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:1253262-1295184","ensembl_id":"ENSG00000164362"}},"GRch38":{"90":{"location":"5:1253147-1295069","ensembl_id":"ENSG00000164362"}}},"hgnc_date_symbol_changed":"1998-01-21"},"entity_type":"gene","entity_name":"TERT","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","PAGE DD-Gene2Phenotype"],"phenotypes":["Dyskeratosis congenita, autosomal recessive 4"],"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":["TRT","TP2","TCS1","hEST2","EST2"],"biotype":"protein_coding","hgnc_id":"HGNC:11730","gene_name":"telomerase reverse transcriptase","omim_gene":["187270"],"alias_name":null,"gene_symbol":"TERT","hgnc_symbol":"TERT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:1253262-1295184","ensembl_id":"ENSG00000164362"}},"GRch38":{"90":{"location":"5:1253147-1295069","ensembl_id":"ENSG00000164362"}}},"hgnc_date_symbol_changed":"1998-01-21"},"entity_type":"gene","entity_name":"TERT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":["17785587"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["Dyskeratosis congenita, autosomal recessive 4"],"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":["TRT","TP2","TCS1","hEST2","EST2"],"biotype":"protein_coding","hgnc_id":"HGNC:11730","gene_name":"telomerase reverse transcriptase","omim_gene":["187270"],"alias_name":null,"gene_symbol":"TERT","hgnc_symbol":"TERT","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:1253262-1295184","ensembl_id":"ENSG00000164362"}},"GRch38":{"90":{"location":"5:1253147-1295069","ensembl_id":"ENSG00000164362"}}},"hgnc_date_symbol_changed":"1998-01-21"},"entity_type":"gene","entity_name":"TERT","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"Other - please provide details in the comments","publications":[],"evidence":["Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Dyskeratosis congenita, autosomal recessive 4"],"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":["TRT","TP2","TCS1","hEST2","EST2"],"biotype":"protein_coding","hgnc_id":"HGNC:11730","gene_name":"telomerase reverse transcriptase","omim_gene":["187270"],"alias_name":null,"gene_symbol":"TERT","hgnc_symbol":"TERT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:1253262-1295184","ensembl_id":"ENSG00000164362"}},"GRch38":{"90":{"location":"5:1253147-1295069","ensembl_id":"ENSG00000164362"}}},"hgnc_date_symbol_changed":"1998-01-21"},"entity_type":"gene","entity_name":"TERT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","NHS GMS","Wessex and West Midlands GLH"],"phenotypes":["Dyskeratosis congenita, 613989"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":466,"hash_id":null,"name":"Hereditary ataxia - adult onset","disease_group":"","disease_sub_group":"","status":"public","version":"1.211","version_created":"2019-09-20T14:18:40.957460Z","relevant_disorders":["Hereditary ataxia with onset in adulthood","R54"],"stats":{"number_of_genes":236,"number_of_strs":13,"number_of_regions":4},"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."}]}}]}