{"count":9,"next":null,"previous":null,"results":[{"gene_data":{"alias":["RPS17L1","RPS17L2","MGC72007","S17"],"biotype":"protein_coding","hgnc_id":"HGNC:10397","gene_name":"ribosomal protein S17","omim_gene":["180472"],"alias_name":null,"gene_symbol":"RPS17","hgnc_symbol":"RPS17","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:83205504-83209315","ensembl_id":"ENSG00000182774"}},"GRch38":{"90":{"location":"15:82536753-82540564","ensembl_id":"ENSG00000182774"}}},"hgnc_date_symbol_changed":"1991-11-29"},"entity_type":"gene","entity_name":"RPS17","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["17647292","19061985","19953637","22045982"],"evidence":["Expert Review Green","Other"],"phenotypes":["Diamond-Blackfan anemia 4, 612527"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["RPS17L1","RPS17L2","MGC72007","S17"],"biotype":"protein_coding","hgnc_id":"HGNC:10397","gene_name":"ribosomal protein S17","omim_gene":["180472"],"alias_name":null,"gene_symbol":"RPS17","hgnc_symbol":"RPS17","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:83205504-83209315","ensembl_id":"ENSG00000182774"}},"GRch38":{"90":{"location":"15:82536753-82540564","ensembl_id":"ENSG00000182774"}}},"hgnc_date_symbol_changed":"1991-11-29"},"entity_type":"gene","entity_name":"RPS17","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28297620"],"evidence":["Curated sources","Expert Review Green"],"phenotypes":["Class: BM failure syndrome (typ AR)","Diamond Blackfan Anemia","MDS, AML","Osteosarcoma, soft tissue sarcomas"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["RPS17L1","RPS17L2","MGC72007","S17"],"biotype":"protein_coding","hgnc_id":"HGNC:10397","gene_name":"ribosomal protein S17","omim_gene":["180472"],"alias_name":null,"gene_symbol":"RPS17","hgnc_symbol":"RPS17","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:83205504-83209315","ensembl_id":"ENSG00000182774"}},"GRch38":{"90":{"location":"15:82536753-82540564","ensembl_id":"ENSG00000182774"}}},"hgnc_date_symbol_changed":"1991-11-29"},"entity_type":"gene","entity_name":"RPS17","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["17647292","19953637","22045982","19061985"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Diamond-Blackfan anemia 4, 612527","Radial Ray abnormality"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["RPS17L1","RPS17L2","MGC72007","S17"],"biotype":"protein_coding","hgnc_id":"HGNC:10397","gene_name":"ribosomal protein S17","omim_gene":["180472"],"alias_name":null,"gene_symbol":"RPS17","hgnc_symbol":"RPS17","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:83205504-83209315","ensembl_id":"ENSG00000182774"}},"GRch38":{"90":{"location":"15:82536753-82540564","ensembl_id":"ENSG00000182774"}}},"hgnc_date_symbol_changed":"1991-11-29"},"entity_type":"gene","entity_name":"RPS17","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["17647292","19061985","19953637","22045982"],"evidence":["Expert Review Green","UKGTN","Radboud University Medical Center, Nijmegen","Expert list"],"phenotypes":["Diamond-Blackfan anemia 4 612527"],"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":["RPS17L1","RPS17L2","MGC72007","S17"],"biotype":"protein_coding","hgnc_id":"HGNC:10397","gene_name":"ribosomal protein S17","omim_gene":["180472"],"alias_name":null,"gene_symbol":"RPS17","hgnc_symbol":"RPS17","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:83205504-83209315","ensembl_id":"ENSG00000182774"}},"GRch38":{"90":{"location":"15:82536753-82540564","ensembl_id":"ENSG00000182774"}}},"hgnc_date_symbol_changed":"1991-11-29"},"entity_type":"gene","entity_name":"RPS17","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["28297620"],"evidence":["Expert Review Green","Curated sources"],"phenotypes":["Class: BM failure syndrome (typ AR)","Diamond Blackfan Anemia","MDS, AML","Osteosarcoma, soft tissue sarcomas"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["RPS17L1","RPS17L2","MGC72007","S17"],"biotype":"protein_coding","hgnc_id":"HGNC:10397","gene_name":"ribosomal protein S17","omim_gene":["180472"],"alias_name":null,"gene_symbol":"RPS17","hgnc_symbol":"RPS17","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:83205504-83209315","ensembl_id":"ENSG00000182774"}},"GRch38":{"90":{"location":"15:82536753-82540564","ensembl_id":"ENSG00000182774"}}},"hgnc_date_symbol_changed":"1991-11-29"},"entity_type":"gene","entity_name":"RPS17","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22045982","19953637","17647292","19061985"],"evidence":["Expert Review Green","North West GLH","Yorkshire and North East GLH","NHS GMS","Wessex and West Midlands GLH"],"phenotypes":["Diamond-Blackfan anemia 4, 612527","612527 Diamond-Blackfan anemia 4"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":518,"hash_id":null,"name":"Rare anaemia","disease_group":"","disease_sub_group":"","status":"public","version":"1.0","version_created":"2019-09-23T14:44:13.433190Z","relevant_disorders":["R92"],"stats":{"number_of_genes":94,"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":["RPS17L1","RPS17L2","MGC72007","S17"],"biotype":"protein_coding","hgnc_id":"HGNC:10397","gene_name":"ribosomal protein S17","omim_gene":["180472"],"alias_name":null,"gene_symbol":"RPS17","hgnc_symbol":"RPS17","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:83205504-83209315","ensembl_id":"ENSG00000182774"}},"GRch38":{"90":{"location":"15:82536753-82540564","ensembl_id":"ENSG00000182774"}}},"hgnc_date_symbol_changed":"1991-11-29"},"entity_type":"gene","entity_name":"RPS17","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22045982","19953637","17647292","19061985","23812780"],"evidence":["Expert Review Green","London South GLH","NHS GMS","Wessex and West Midlands GLH"],"phenotypes":["Diamond-Blackfan anemia 4, 612527"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["RPS17L1","RPS17L2","MGC72007","S17"],"biotype":"protein_coding","hgnc_id":"HGNC:10397","gene_name":"ribosomal protein S17","omim_gene":["180472"],"alias_name":null,"gene_symbol":"RPS17","hgnc_symbol":"RPS17","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:83205504-83209315","ensembl_id":"ENSG00000182774"}},"GRch38":{"90":{"location":"15:82536753-82540564","ensembl_id":"ENSG00000182774"}}},"hgnc_date_symbol_changed":"1991-11-29"},"entity_type":"gene","entity_name":"RPS17","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["PAGE Additional Gene List","Expert Review Green"],"phenotypes":["Diamond-Blackfan anemia 4 612527"],"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":["RPS17L1","RPS17L2","MGC72007","S17"],"biotype":"protein_coding","hgnc_id":"HGNC:10397","gene_name":"ribosomal protein S17","omim_gene":["180472"],"alias_name":null,"gene_symbol":"RPS17","hgnc_symbol":"RPS17","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:83205504-83209315","ensembl_id":"ENSG00000182774"}},"GRch38":{"90":{"location":"15:82536753-82540564","ensembl_id":"ENSG00000182774"}}},"hgnc_date_symbol_changed":"1991-11-29"},"entity_type":"gene","entity_name":"RPS17","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red"],"phenotypes":["DIAMOND-BLACKFAN ANEMIA 4","DBA4"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":81,"hash_id":"57acb8268f620364dc61afd3","name":"Clefting","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","status":"public","version":"1.59","version_created":"2019-09-03T09:03:20.170928Z","relevant_disorders":["Familial non-syndromic cleft lip and or familial cleft palate","Familial non-syndromic clefting","Syndromic cleft lip and or cleft palate","Syndromic clefting"],"stats":{"number_of_genes":258,"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."},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}}]}