{"count":24,"next":null,"previous":null,"results":[{"gene_data":{"alias":["N-ras"],"biotype":"protein_coding","hgnc_id":"HGNC:7989","gene_name":"NRAS proto-oncogene, GTPase","omim_gene":["164790"],"alias_name":null,"gene_symbol":"NRAS","hgnc_symbol":"NRAS","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:115247090-115259515","ensembl_id":"ENSG00000213281"}},"GRch38":{"90":{"location":"1:114704469-114716894","ensembl_id":"ENSG00000213281"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"NRAS","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"Other - please provide details in the comments","publications":["Nat Genet. 42: 27-29, 2010"],"evidence":["Expert Review Green","Other"],"phenotypes":["A restricted spectrum of NRAS mutations causes Noonan syndrome. (Nat Genet. 42: 27-29, 2010.)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["N-ras"],"biotype":"protein_coding","hgnc_id":"HGNC:7989","gene_name":"NRAS proto-oncogene, GTPase","omim_gene":["164790"],"alias_name":null,"gene_symbol":"NRAS","hgnc_symbol":"NRAS","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:115247090-115259515","ensembl_id":"ENSG00000213281"}},"GRch38":{"90":{"location":"1:114704469-114716894","ensembl_id":"ENSG00000213281"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"NRAS","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["PMID: 19966803","19775298"],"evidence":["Eligibility statement prior genetic testing","Expert Review Green"],"phenotypes":["Noonan syndrome","Noonan syndrome 6","Cardio-Facio-cutanenous syndrome","CFC Syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":144,"hash_id":"5763f4868f620350a199604f","name":"Fetal hydrops","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Fetal disorders","status":"public","version":"1.16","version_created":"2018-12-05T18:38:09.145885Z","relevant_disorders":[],"stats":{"number_of_genes":67,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["N-ras"],"biotype":"protein_coding","hgnc_id":"HGNC:7989","gene_name":"NRAS proto-oncogene, GTPase","omim_gene":["164790"],"alias_name":null,"gene_symbol":"NRAS","hgnc_symbol":"NRAS","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:115247090-115259515","ensembl_id":"ENSG00000213281"}},"GRch38":{"90":{"location":"1:114704469-114716894","ensembl_id":"ENSG00000213281"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"NRAS","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["18671780"],"evidence":["NHS GMS","Expert Review Red","Literature"],"phenotypes":["Neurocutaneous melanosis, somatic"],"mode_of_inheritance":"","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":["N-ras"],"biotype":"protein_coding","hgnc_id":"HGNC:7989","gene_name":"NRAS proto-oncogene, GTPase","omim_gene":["164790"],"alias_name":null,"gene_symbol":"NRAS","hgnc_symbol":"NRAS","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:115247090-115259515","ensembl_id":"ENSG00000213281"}},"GRch38":{"90":{"location":"1:114704469-114716894","ensembl_id":"ENSG00000213281"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"NRAS","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Other"],"phenotypes":["Hemimegalencephaly","Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200"],"mode_of_inheritance":"","tags":[],"panel":{"id":98,"hash_id":"5763f2348f620350a1996043","name":"Segmental overgrowth disorders","disease_group":"","disease_sub_group":"","status":"public","version":"1.8","version_created":"2019-06-20T15:15:15.957079Z","relevant_disorders":["Regional overgrowth 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"},{"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":["N-ras"],"biotype":"protein_coding","hgnc_id":"HGNC:7989","gene_name":"NRAS proto-oncogene, GTPase","omim_gene":["164790"],"alias_name":null,"gene_symbol":"NRAS","hgnc_symbol":"NRAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:115247090-115259515","ensembl_id":"ENSG00000213281"}},"GRch38":{"90":{"location":"1:114704469-114716894","ensembl_id":"ENSG00000213281"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"NRAS","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["23875798"],"evidence":["NHS GMS","Expert List"],"phenotypes":["Cardio-Facio-cutanenous syndrome","Noonan syndrome 6 613224","CFC Syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["N-ras"],"biotype":"protein_coding","hgnc_id":"HGNC:7989","gene_name":"NRAS proto-oncogene, GTPase","omim_gene":["164790"],"alias_name":null,"gene_symbol":"NRAS","hgnc_symbol":"NRAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:115247090-115259515","ensembl_id":"ENSG00000213281"}},"GRch38":{"90":{"location":"1:114704469-114716894","ensembl_id":"ENSG00000213281"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"NRAS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Congenital melanocytic naevus syndrome","Melanocytic naevi","Noonan syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["N-ras"],"biotype":"protein_coding","hgnc_id":"HGNC:7989","gene_name":"NRAS proto-oncogene, GTPase","omim_gene":["164790"],"alias_name":null,"gene_symbol":"NRAS","hgnc_symbol":"NRAS","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:115247090-115259515","ensembl_id":"ENSG00000213281"}},"GRch38":{"90":{"location":"1:114704469-114716894","ensembl_id":"ENSG00000213281"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"NRAS","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["South West GLH","Expert list"],"phenotypes":["syndromic HCM"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":49,"hash_id":"55a39e2d22c1fc6711b0c6b3","name":"Hypertrophic cardiomyopathy - teen and adult","disease_group":"Cardiovascular disorders","disease_sub_group":"Cardiomyopathy","status":"public","version":"1.77","version_created":"2019-10-02T12:51:19.933333Z","relevant_disorders":["Hypertrophic Cardiomyopathy","HCM","R131"],"stats":{"number_of_genes":70,"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","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":["N-ras"],"biotype":"protein_coding","hgnc_id":"HGNC:7989","gene_name":"NRAS proto-oncogene, GTPase","omim_gene":["164790"],"alias_name":null,"gene_symbol":"NRAS","hgnc_symbol":"NRAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:115247090-115259515","ensembl_id":"ENSG00000213281"}},"GRch38":{"90":{"location":"1:114704469-114716894","ensembl_id":"ENSG00000213281"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"NRAS","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["17517660","21079152","29141318","5896945"],"evidence":["NHS GMS","North West GLH","London North GLH","Expert Review Amber","ESID Registry 20171117","GRID V2.0","GOSH PID v.8.0"],"phenotypes":["?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic 614470","Autoimmune lymphoproliferative syndrome type IV","Ras associated lymphoproliferative disease (RALD)"],"mode_of_inheritance":"Other - please specifiy in evaluation comments","tags":["somatic","mosaicism"],"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":["N-ras"],"biotype":"protein_coding","hgnc_id":"HGNC:7989","gene_name":"NRAS proto-oncogene, GTPase","omim_gene":["164790"],"alias_name":null,"gene_symbol":"NRAS","hgnc_symbol":"NRAS","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:115247090-115259515","ensembl_id":"ENSG00000213281"}},"GRch38":{"90":{"location":"1:114704469-114716894","ensembl_id":"ENSG00000213281"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"NRAS","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BRIDGE consortium (NIHRBR-RD)"],"phenotypes":["Myelodysplastic syndrome (MDS), Paediatric"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["N-ras"],"biotype":"protein_coding","hgnc_id":"HGNC:7989","gene_name":"NRAS proto-oncogene, GTPase","omim_gene":["164790"],"alias_name":null,"gene_symbol":"NRAS","hgnc_symbol":"NRAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:115247090-115259515","ensembl_id":"ENSG00000213281"}},"GRch38":{"90":{"location":"1:114704469-114716894","ensembl_id":"ENSG00000213281"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"NRAS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Congenital melanocytic naevus syndrome","Melanocytic naevi","Noonan syndrome"],"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":["N-ras"],"biotype":"protein_coding","hgnc_id":"HGNC:7989","gene_name":"NRAS proto-oncogene, GTPase","omim_gene":["164790"],"alias_name":null,"gene_symbol":"NRAS","hgnc_symbol":"NRAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:115247090-115259515","ensembl_id":"ENSG00000213281"}},"GRch38":{"90":{"location":"1:114704469-114716894","ensembl_id":"ENSG00000213281"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"NRAS","confidence_level":"0","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Removed","London North GLH","NHS GMS"],"phenotypes":["Melanocytic naevi","Noonan syndrome","Congenital melanocytic naevus syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":558,"hash_id":null,"name":"Multiple monogenic benign skin tumours","disease_group":"","disease_sub_group":"","status":"public","version":"0.10","version_created":"2019-06-20T15:15:13.746402Z","relevant_disorders":[],"stats":{"number_of_genes":43,"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":["N-ras"],"biotype":"protein_coding","hgnc_id":"HGNC:7989","gene_name":"NRAS proto-oncogene, GTPase","omim_gene":["164790"],"alias_name":null,"gene_symbol":"NRAS","hgnc_symbol":"NRAS","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:115247090-115259515","ensembl_id":"ENSG00000213281"}},"GRch38":{"90":{"location":"1:114704469-114716894","ensembl_id":"ENSG00000213281"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"NRAS","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["23875798"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Noonan syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["N-ras"],"biotype":"protein_coding","hgnc_id":"HGNC:7989","gene_name":"NRAS proto-oncogene, GTPase","omim_gene":["164790"],"alias_name":null,"gene_symbol":"NRAS","hgnc_symbol":"NRAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:115247090-115259515","ensembl_id":"ENSG00000213281"}},"GRch38":{"90":{"location":"1:114704469-114716894","ensembl_id":"ENSG00000213281"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"NRAS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23875798"],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["Cardio-Facio-cutanenous syndrome","Noonan syndrome 6 613224","CFC Syndrome"],"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."}]}},{"gene_data":{"alias":["N-ras"],"biotype":"protein_coding","hgnc_id":"HGNC:7989","gene_name":"NRAS proto-oncogene, GTPase","omim_gene":["164790"],"alias_name":null,"gene_symbol":"NRAS","hgnc_symbol":"NRAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:115247090-115259515","ensembl_id":"ENSG00000213281"}},"GRch38":{"90":{"location":"1:114704469-114716894","ensembl_id":"ENSG00000213281"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"NRAS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["PAGE DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["NOONAN SYNDROME TYPE 6"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["N-ras"],"biotype":"protein_coding","hgnc_id":"HGNC:7989","gene_name":"NRAS proto-oncogene, GTPase","omim_gene":["164790"],"alias_name":null,"gene_symbol":"NRAS","hgnc_symbol":"NRAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:115247090-115259515","ensembl_id":"ENSG00000213281"}},"GRch38":{"90":{"location":"1:114704469-114716894","ensembl_id":"ENSG00000213281"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"NRAS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":["19966803"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["NOONAN SYNDROME TYPE 6 613224"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["N-ras"],"biotype":"protein_coding","hgnc_id":"HGNC:7989","gene_name":"NRAS proto-oncogene, GTPase","omim_gene":["164790"],"alias_name":null,"gene_symbol":"NRAS","hgnc_symbol":"NRAS","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:115247090-115259515","ensembl_id":"ENSG00000213281"}},"GRch38":{"90":{"location":"1:114704469-114716894","ensembl_id":"ENSG00000213281"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"NRAS","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","South West GLH","Emory Genetics Laboratory"],"phenotypes":["Cardiomyopathy"],"mode_of_inheritance":"","tags":[],"panel":{"id":85,"hash_id":"55ad205422c1fc7041340234","name":"Hereditary neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor and Sensory Disorders of the PNS","status":"public","version":"1.333","version_created":"2019-07-09T13:10:50.031506Z","relevant_disorders":["Charcot-Marie-Tooth disease"],"stats":{"number_of_genes":276,"number_of_strs":11,"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":["N-ras"],"biotype":"protein_coding","hgnc_id":"HGNC:7989","gene_name":"NRAS proto-oncogene, GTPase","omim_gene":["164790"],"alias_name":null,"gene_symbol":"NRAS","hgnc_symbol":"NRAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:115247090-115259515","ensembl_id":"ENSG00000213281"}},"GRch38":{"90":{"location":"1:114704469-114716894","ensembl_id":"ENSG00000213281"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"NRAS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["19966803","19775298"],"evidence":["Expert Review Green"],"phenotypes":["Noonan syndrome","CFC Syndrome","A restricted spectrum of NRAS mutations causes Noonan syndrome. (Nat Genet. 42: 27-29, 2010.)","Noonan syndrome 6","Cardio-Facio-cutanenous syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["N-ras"],"biotype":"protein_coding","hgnc_id":"HGNC:7989","gene_name":"NRAS proto-oncogene, GTPase","omim_gene":["164790"],"alias_name":null,"gene_symbol":"NRAS","hgnc_symbol":"NRAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:115247090-115259515","ensembl_id":"ENSG00000213281"}},"GRch38":{"90":{"location":"1:114704469-114716894","ensembl_id":"ENSG00000213281"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"NRAS","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Wessex and West Midlands GLH","NHS GMS","Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":402,"hash_id":null,"name":"Genetic epilepsy syndromes","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Inherited Epilepsy Syndromes","status":"public","version":"1.363","version_created":"2019-10-08T10:06:11.607307Z","relevant_disorders":["Epilepsy Plus","Epilepsy plus other features","Genetic Epilepsy Syndromes","Epileptic encephalopathy","Familial Focal Epilepsies","Familial Genetic Generalised Epilepsies","Genetic Epilepsies with Febrile Seizures Plus (GEFS+)","Genetic Epilepsies with Febrile Seizures Plus"],"stats":{"number_of_genes":614,"number_of_strs":2,"number_of_regions":13},"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":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["N-ras"],"biotype":"protein_coding","hgnc_id":"HGNC:7989","gene_name":"NRAS proto-oncogene, GTPase","omim_gene":["164790"],"alias_name":null,"gene_symbol":"NRAS","hgnc_symbol":"NRAS","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:115247090-115259515","ensembl_id":"ENSG00000213281"}},"GRch38":{"90":{"location":"1:114704469-114716894","ensembl_id":"ENSG00000213281"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"NRAS","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen"],"phenotypes":["Autoimmune lymphoproliferative syndrome type IV, 614470Noonan syndrome 6, 613224Epidermal nevus, somatic, 162900Thyroid carcinoma, follicular, somatic, 188470Colorectal cancer, somatic, 114500","NOONAN SYNDROME TYPE 6"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["N-ras"],"biotype":"protein_coding","hgnc_id":"HGNC:7989","gene_name":"NRAS proto-oncogene, GTPase","omim_gene":["164790"],"alias_name":null,"gene_symbol":"NRAS","hgnc_symbol":"NRAS","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:115247090-115259515","ensembl_id":"ENSG00000213281"}},"GRch38":{"90":{"location":"1:114704469-114716894","ensembl_id":"ENSG00000213281"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"NRAS","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["19966803","19775298"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory","Illumina TruGenome Clinical Sequencing Services","Eligibility statement prior genetic testing","UKGTN"],"phenotypes":["Noonan syndrome 6 613224","Cardio-Facio-cutanenous syndrome","CFC Syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":48,"hash_id":"564cbd3622c1fc10dcb42ac7","name":"RASopathies","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"RASopathies","status":"public","version":"1.55","version_created":"2019-06-20T15:15:15.497518Z","relevant_disorders":["Cardio-facio-cutaneous syndrome","Costello syndrome","LEOPARD syndrome","Legius syndrome","Noonan syndrome","Noonan syndrome plus other features"],"stats":{"number_of_genes":19,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["N-ras"],"biotype":"protein_coding","hgnc_id":"HGNC:7989","gene_name":"NRAS proto-oncogene, GTPase","omim_gene":["164790"],"alias_name":null,"gene_symbol":"NRAS","hgnc_symbol":"NRAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:115247090-115259515","ensembl_id":"ENSG00000213281"}},"GRch38":{"90":{"location":"1:114704469-114716894","ensembl_id":"ENSG00000213281"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"NRAS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments","publications":["19966803","19775298"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Noonan syndrome 6 613224"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":65,"hash_id":"57ee82ef8f62035c9b2d0487","name":"Primary lymphoedema","disease_group":"Cardiovascular disorders","disease_sub_group":"Lymphatic Disorders","status":"public","version":"2.0","version_created":"2019-10-02T14:10:33.689992Z","relevant_disorders":["Lymphatic Disorders","Meiges disease","Meige disease","Milroy disease","Lymphoedema distichiasis","Lipoedema disease","R136"],"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":"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":["N-ras"],"biotype":"protein_coding","hgnc_id":"HGNC:7989","gene_name":"NRAS proto-oncogene, GTPase","omim_gene":["164790"],"alias_name":null,"gene_symbol":"NRAS","hgnc_symbol":"NRAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:115247090-115259515","ensembl_id":"ENSG00000213281"}},"GRch38":{"90":{"location":"1:114704469-114716894","ensembl_id":"ENSG00000213281"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"NRAS","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red"],"phenotypes":["Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200","Hemimegalencephaly"],"mode_of_inheritance":"","tags":[],"panel":{"id":736,"hash_id":null,"name":"Neurological segmental overgrowth","disease_group":"","disease_sub_group":"","status":"public","version":"0.5","version_created":"2019-07-31T10:28:11.640030Z","relevant_disorders":[],"stats":{"number_of_genes":12,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"},{"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":["N-ras"],"biotype":"protein_coding","hgnc_id":"HGNC:7989","gene_name":"NRAS proto-oncogene, GTPase","omim_gene":["164790"],"alias_name":null,"gene_symbol":"NRAS","hgnc_symbol":"NRAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:115247090-115259515","ensembl_id":"ENSG00000213281"}},"GRch38":{"90":{"location":"1:114704469-114716894","ensembl_id":"ENSG00000213281"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"NRAS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["19775298","19966803"],"evidence":["Expert List","South West GLH","London South GLH","Expert Review Green"],"phenotypes":["CFC Syndrome","Noonan syndrome","Noonan syndrome 6","Noonan syndrome 6 613224","syndromic HCM","Cardio-Facio-cutanenous syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":749,"hash_id":null,"name":"Cardiomyopathies - including childhood onset","disease_group":"","disease_sub_group":"","status":"public","version":"0.13","version_created":"2019-09-16T12:01:25.928956Z","relevant_disorders":["Paediatric or syndromic cardiomyopathy","R135"],"stats":{"number_of_genes":180,"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":"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":["N-ras"],"biotype":"protein_coding","hgnc_id":"HGNC:7989","gene_name":"NRAS proto-oncogene, GTPase","omim_gene":["164790"],"alias_name":null,"gene_symbol":"NRAS","hgnc_symbol":"NRAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:115247090-115259515","ensembl_id":"ENSG00000213281"}},"GRch38":{"90":{"location":"1:114704469-114716894","ensembl_id":"ENSG00000213281"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"NRAS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["19775298","19966803"],"evidence":["London South GLH","Expert Review Green","London South GLH","Expert Review Green"],"phenotypes":["CFC Syndrome","Noonan syndrome","syndromic HCM","Noonan syndrome 6","Cardio-Facio-cutanenous syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":750,"hash_id":null,"name":"Sudden cardiac death","disease_group":"","disease_sub_group":"","status":"public","version":"0.10","version_created":"2019-09-24T10:05:54.784946Z","relevant_disorders":["Molecular autopsy","R138"],"stats":{"number_of_genes":119,"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 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."}]}}]}