{"count":8,"next":null,"previous":null,"results":[{"gene_data":{"alias":["CDS1","CHK2","HuCds1","PP1425","bA444G7"],"biotype":"protein_coding","hgnc_id":"HGNC:16627","gene_name":"checkpoint kinase 2","omim_gene":["604373"],"alias_name":null,"gene_symbol":"CHEK2","hgnc_symbol":"CHEK2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"22:29083731-29138410","ensembl_id":"ENSG00000183765"}},"GRch38":{"90":{"location":"22:28687743-28742422","ensembl_id":"ENSG00000183765"}}},"hgnc_date_symbol_changed":"2001-09-27"},"entity_type":"gene","entity_name":"CHEK2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services","Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen"],"phenotypes":["Li-Fraumeni syndrome, 609265","Osteosarcoma, somatic, 259500","{Breast cancer, susceptibility to}, 114480","{Prostate cancer, familial, susceptibility to}, 176807","{Breast and colorectal cancer, susceptibility to}","Breast and Ovarian Cancer","Breast Cancer"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":158,"hash_id":"55b62bc422c1fc05fc7a1857","name":"Familial breast cancer","disease_group":"Tumour syndromes","disease_sub_group":"Breast and endocrine","status":"public","version":"1.13","version_created":"2017-11-05T02:37:20.139339Z","relevant_disorders":["Familial breast and or ovarian cancer"],"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":["CDS1","CHK2","HuCds1","PP1425","bA444G7"],"biotype":"protein_coding","hgnc_id":"HGNC:16627","gene_name":"checkpoint kinase 2","omim_gene":["604373"],"alias_name":null,"gene_symbol":"CHEK2","hgnc_symbol":"CHEK2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"22:29083731-29138410","ensembl_id":"ENSG00000183765"}},"GRch38":{"90":{"location":"22:28687743-28742422","ensembl_id":"ENSG00000183765"}}},"hgnc_date_symbol_changed":"2001-09-27"},"entity_type":"gene","entity_name":"CHEK2","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["26074382"],"evidence":["Literature"],"phenotypes":["{Prostate cancer, familial, susceptibility to}"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":318,"hash_id":"5763f2bf8f620350a1996047","name":"Familial prostate cancer","disease_group":"","disease_sub_group":"","status":"public","version":"1.1","version_created":"2017-11-05T02:37:20.419988Z","relevant_disorders":[],"stats":{"number_of_genes":14,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["CDS1","CHK2","HuCds1","PP1425","bA444G7"],"biotype":"protein_coding","hgnc_id":"HGNC:16627","gene_name":"checkpoint kinase 2","omim_gene":["604373"],"alias_name":null,"gene_symbol":"CHEK2","hgnc_symbol":"CHEK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:29083731-29138410","ensembl_id":"ENSG00000183765"}},"GRch38":{"90":{"location":"22:28687743-28742422","ensembl_id":"ENSG00000183765"}}},"hgnc_date_symbol_changed":"2001-09-27"},"entity_type":"gene","entity_name":"CHEK2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Breast cancer"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":391,"hash_id":null,"name":"Adult solid tumours for rare disease","disease_group":"Tumour syndromes","disease_sub_group":"Tumour syndromes","status":"public","version":"1.22","version_created":"2019-06-20T15:10:02.142139Z","relevant_disorders":["Young adult onset cancer","Exceptionally young adult onset cancer","Multiple Tumours","Rare tumour predisposition syndromes"],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["CDS1","CHK2","HuCds1","PP1425","bA444G7"],"biotype":"protein_coding","hgnc_id":"HGNC:16627","gene_name":"checkpoint kinase 2","omim_gene":["604373"],"alias_name":null,"gene_symbol":"CHEK2","hgnc_symbol":"CHEK2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"22:29083731-29138410","ensembl_id":"ENSG00000183765"}},"GRch38":{"90":{"location":"22:28687743-28742422","ensembl_id":"ENSG00000183765"}}},"hgnc_date_symbol_changed":"2001-09-27"},"entity_type":"gene","entity_name":"CHEK2","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Illumina TruGenome Clinical Sequencing Services","Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen"],"phenotypes":["Li-Fraumeni syndrome, 609265","Osteosarcoma, somatic, 259500","{Breast cancer, susceptibility to}, 114480","{Prostate cancer, familial, susceptibility to}, 176807","{Breast and colorectal cancer, susceptibility to}","Breast and Ovarian Cancer","Breast Cancer"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":143,"hash_id":"592843a08f6203468490fa68","name":"Inherited ovarian cancer (without breast cancer)","disease_group":"Tumour syndromes","disease_sub_group":"Breast and endocrine","status":"public","version":"2.0","version_created":"2019-08-16T09:48:34.583608Z","relevant_disorders":["Familial ovarian cancer","R207"],"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"},{"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":["CDS1","CHK2","HuCds1","PP1425","bA444G7"],"biotype":"protein_coding","hgnc_id":"HGNC:16627","gene_name":"checkpoint kinase 2","omim_gene":["604373"],"alias_name":null,"gene_symbol":"CHEK2","hgnc_symbol":"CHEK2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"22:29083731-29138410","ensembl_id":"ENSG00000183765"}},"GRch38":{"90":{"location":"22:28687743-28742422","ensembl_id":"ENSG00000183765"}}},"hgnc_date_symbol_changed":"2001-09-27"},"entity_type":"gene","entity_name":"CHEK2","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Emory Genetics Laboratory","Illumina TruGenome Clinical Sequencing Services","Expert Review Red"],"phenotypes":["Colorectal cancer","Gastrointestinal and Colorectal Cancer","High Risk Colorectal Cancer"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":254,"hash_id":"591444928f620348d4b20c16","name":"GI tract tumours","disease_group":"Tumour syndromes","disease_sub_group":"GI tract","status":"public","version":"1.18","version_created":"2019-08-05T14:17:21.117330Z","relevant_disorders":["GI tract tumours","Familial colon cancer","Multiple bowel polyps","Peutz-Jeghers syndrome","GI tract","Inherited colorectal cancer (with or without polyposis)"],"stats":{"number_of_genes":30,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["CDS1","CHK2","HuCds1","PP1425","bA444G7"],"biotype":"protein_coding","hgnc_id":"HGNC:16627","gene_name":"checkpoint kinase 2","omim_gene":["604373"],"alias_name":null,"gene_symbol":"CHEK2","hgnc_symbol":"CHEK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:29083731-29138410","ensembl_id":"ENSG00000183765"}},"GRch38":{"90":{"location":"22:28687743-28742422","ensembl_id":"ENSG00000183765"}}},"hgnc_date_symbol_changed":"2001-09-27"},"entity_type":"gene","entity_name":"CHEK2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Adult solid tumours for rare disease (Version 1.21)","Expert Review Amber"],"phenotypes":["Breast cancer"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":470,"hash_id":null,"name":"Tumour predisposition - adult onset","disease_group":"","disease_sub_group":"","status":"public","version":"1.1","version_created":"2019-06-20T15:14:23.703488Z","relevant_disorders":[],"stats":{"number_of_genes":63,"number_of_strs":0,"number_of_regions":2},"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":["CDS1","CHK2","HuCds1","PP1425","bA444G7"],"biotype":"protein_coding","hgnc_id":"HGNC:16627","gene_name":"checkpoint kinase 2","omim_gene":["604373"],"alias_name":null,"gene_symbol":"CHEK2","hgnc_symbol":"CHEK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:29083731-29138410","ensembl_id":"ENSG00000183765"}},"GRch38":{"90":{"location":"22:28687743-28742422","ensembl_id":"ENSG00000183765"}}},"hgnc_date_symbol_changed":"2001-09-27"},"entity_type":"gene","entity_name":"CHEK2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["29902706"],"evidence":["Expert Review Amber","North West GLH","Yorkshire and North East GLH","NHS GMS","Wessex and West Midlands GLH"],"phenotypes":["609265 Li-Fraumeni syndrome","609265 (OMIM phenotype description ID)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["CDS1","CHK2","HuCds1","PP1425","bA444G7"],"biotype":"protein_coding","hgnc_id":"HGNC:16627","gene_name":"checkpoint kinase 2","omim_gene":["604373"],"alias_name":null,"gene_symbol":"CHEK2","hgnc_symbol":"CHEK2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"22:29083731-29138410","ensembl_id":"ENSG00000183765"}},"GRch38":{"90":{"location":"22:28687743-28742422","ensembl_id":"ENSG00000183765"}}},"hgnc_date_symbol_changed":"2001-09-27"},"entity_type":"gene","entity_name":"CHEK2","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Amber","Expert list"],"phenotypes":["Breast cancer"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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."}]}}]}
