{"count":8,"next":null,"previous":null,"results":[{"gene_data":{"alias":["L35A"],"biotype":"protein_coding","hgnc_id":"HGNC:10345","gene_name":"ribosomal protein L35a","omim_gene":["180468"],"alias_name":null,"gene_symbol":"RPL35A","hgnc_symbol":"RPL35A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"3:197676858-197683481","ensembl_id":"ENSG00000182899"}},"GRch38":{"90":{"location":"3:197949987-197956610","ensembl_id":"ENSG00000182899"}}},"hgnc_date_symbol_changed":"1991-11-29"},"entity_type":"gene","entity_name":"RPL35A","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["18535205"],"evidence":["Expert Review Green","Expert list","Other"],"phenotypes":["Diamond-Blackfan anemia 5, 612528","upper limb malformation"],"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":["L35A"],"biotype":"protein_coding","hgnc_id":"HGNC:10345","gene_name":"ribosomal protein L35a","omim_gene":["180468"],"alias_name":null,"gene_symbol":"RPL35A","hgnc_symbol":"RPL35A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:197676858-197683481","ensembl_id":"ENSG00000182899"}},"GRch38":{"90":{"location":"3:197949987-197956610","ensembl_id":"ENSG00000182899"}}},"hgnc_date_symbol_changed":"1991-11-29"},"entity_type":"gene","entity_name":"RPL35A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"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":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":["L35A"],"biotype":"protein_coding","hgnc_id":"HGNC:10345","gene_name":"ribosomal protein L35a","omim_gene":["180468"],"alias_name":null,"gene_symbol":"RPL35A","hgnc_symbol":"RPL35A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:197676858-197683481","ensembl_id":"ENSG00000182899"}},"GRch38":{"90":{"location":"3:197949987-197956610","ensembl_id":"ENSG00000182899"}}},"hgnc_date_symbol_changed":"1991-11-29"},"entity_type":"gene","entity_name":"RPL35A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["18535205"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["upper limb malformation","Diamond-Blackfan anemia 5, 612528","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":["L35A"],"biotype":"protein_coding","hgnc_id":"HGNC:10345","gene_name":"ribosomal protein L35a","omim_gene":["180468"],"alias_name":null,"gene_symbol":"RPL35A","hgnc_symbol":"RPL35A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"3:197676858-197683481","ensembl_id":"ENSG00000182899"}},"GRch38":{"90":{"location":"3:197949987-197956610","ensembl_id":"ENSG00000182899"}}},"hgnc_date_symbol_changed":"1991-11-29"},"entity_type":"gene","entity_name":"RPL35A","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["25946618","18535205"],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services","Expert list","UKGTN","Radboud University Medical Center, Nijmegen"],"phenotypes":["Inherited Bone Marrow Failure Syndromes","Diamond Blackfan anemia","Diamond-Blackfan Anemia","Diamond-Blackfan anemia 5, 612528","Diamond_Blackfan Anemia 5","DIAMOND-BLACKFAN ANEMIA 5"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["L35A"],"biotype":"protein_coding","hgnc_id":"HGNC:10345","gene_name":"ribosomal protein L35a","omim_gene":["180468"],"alias_name":null,"gene_symbol":"RPL35A","hgnc_symbol":"RPL35A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"3:197676858-197683481","ensembl_id":"ENSG00000182899"}},"GRch38":{"90":{"location":"3:197949987-197956610","ensembl_id":"ENSG00000182899"}}},"hgnc_date_symbol_changed":"1991-11-29"},"entity_type":"gene","entity_name":"RPL35A","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":["L35A"],"biotype":"protein_coding","hgnc_id":"HGNC:10345","gene_name":"ribosomal protein L35a","omim_gene":["180468"],"alias_name":null,"gene_symbol":"RPL35A","hgnc_symbol":"RPL35A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:197676858-197683481","ensembl_id":"ENSG00000182899"}},"GRch38":{"90":{"location":"3:197949987-197956610","ensembl_id":"ENSG00000182899"}}},"hgnc_date_symbol_changed":"1991-11-29"},"entity_type":"gene","entity_name":"RPL35A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18535205"],"evidence":["North West GLH","Yorkshire and North East GLH","London South GLH","NHS GMS","Expert Review Green","Wessex and West Midlands GLH"],"phenotypes":["612528 Diamond_Blackfan Anemia 5","Diamond-Blackfan Anemia 5","Diamond-Blackfan anemia 5, 612528","Diamond-Blackfan Anemia","612528 Diamond-Blackfan anemia 5","DIAMOND-BLACKFAN ANEMIA 5","Inherited Bone Marrow Failure Syndromes","Diamond_Blackfan Anemia 5","Diamond Blackfan anemia"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["L35A"],"biotype":"protein_coding","hgnc_id":"HGNC:10345","gene_name":"ribosomal protein L35a","omim_gene":["180468"],"alias_name":null,"gene_symbol":"RPL35A","hgnc_symbol":"RPL35A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:197676858-197683481","ensembl_id":"ENSG00000182899"}},"GRch38":{"90":{"location":"3:197949987-197956610","ensembl_id":"ENSG00000182899"}}},"hgnc_date_symbol_changed":"1991-11-29"},"entity_type":"gene","entity_name":"RPL35A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25946618","18535205"],"evidence":["Expert Review Green","London South GLH","NHS GMS","Wessex and West Midlands GLH"],"phenotypes":["Diamond-Blackfan anemia 5, 612528","Diamond-Blackfan Anemia","DIAMOND-BLACKFAN ANEMIA 5","Inherited Bone Marrow Failure Syndromes","Diamond Blackfan Anemia 5","Diamond Blackfan anemia"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["L35A"],"biotype":"protein_coding","hgnc_id":"HGNC:10345","gene_name":"ribosomal protein L35a","omim_gene":["180468"],"alias_name":null,"gene_symbol":"RPL35A","hgnc_symbol":"RPL35A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:197676858-197683481","ensembl_id":"ENSG00000182899"}},"GRch38":{"90":{"location":"3:197949987-197956610","ensembl_id":"ENSG00000182899"}}},"hgnc_date_symbol_changed":"1991-11-29"},"entity_type":"gene","entity_name":"RPL35A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","PAGE Additional Gene List"],"phenotypes":["Diamond-Blackfan anemia 5 612528"],"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."}]}}]}
