{"count":6,"next":null,"previous":null,"results":[{"gene_data":{"alias":["SAF-A","hnRNPU","FLJ37978","FLJ30202"],"biotype":"protein_coding","hgnc_id":"HGNC:5048","gene_name":"heterogeneous nuclear ribonucleoprotein U","omim_gene":["602869"],"alias_name":["scaffold attachment factor A"],"gene_symbol":"HNRNPU","hgnc_symbol":"HNRNPU","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:245014468-245027844","ensembl_id":"ENSG00000153187"}},"GRch38":{"90":{"location":"1:244840638-244864560","ensembl_id":"ENSG00000153187"}}},"hgnc_date_symbol_changed":"2007-08-16"},"entity_type":"gene","entity_name":"HNRNPU","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Radboud University Medical Center"],"phenotypes":["Epileptic encephalopathy, early infantile, 54 (617391)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":483,"hash_id":null,"name":"Pituitary hormone deficiency","disease_group":"","disease_sub_group":"","status":"public","version":"2.0","version_created":"2019-07-31T14:30:21.964840Z","relevant_disorders":["R159"],"stats":{"number_of_genes":50,"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."},{"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":["SAF-A","hnRNPU","FLJ37978","FLJ30202"],"biotype":"protein_coding","hgnc_id":"HGNC:5048","gene_name":"heterogeneous nuclear ribonucleoprotein U","omim_gene":["602869"],"alias_name":["scaffold attachment factor A"],"gene_symbol":"HNRNPU","hgnc_symbol":"HNRNPU","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:245014468-245027844","ensembl_id":"ENSG00000153187"}},"GRch38":{"90":{"location":"1:244840638-244864560","ensembl_id":"ENSG00000153187"}}},"hgnc_date_symbol_changed":"2007-08-16"},"entity_type":"gene","entity_name":"HNRNPU","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","SFARI"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":657,"hash_id":null,"name":"Autism","disease_group":"","disease_sub_group":"","status":"public","version":"0.15","version_created":"2019-06-20T15:10:14.437740Z","relevant_disorders":[],"stats":{"number_of_genes":733,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Research","slug":"research","description":"This is a gene panel used for research."}]}},{"gene_data":{"alias":["SAF-A","hnRNPU","FLJ37978","FLJ30202"],"biotype":"protein_coding","hgnc_id":"HGNC:5048","gene_name":"heterogeneous nuclear ribonucleoprotein U","omim_gene":["602869"],"alias_name":["scaffold attachment factor A"],"gene_symbol":"HNRNPU","hgnc_symbol":"HNRNPU","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:245014468-245027844","ensembl_id":"ENSG00000153187"}},"GRch38":{"90":{"location":"1:244840638-244864560","ensembl_id":"ENSG00000153187"}}},"hgnc_date_symbol_changed":"2007-08-16"},"entity_type":"gene","entity_name":"HNRNPU","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","PAGE DD-Gene2Phenotype"],"phenotypes":["EPILEPTIC ENCEPHALOPATHY"],"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":["SAF-A","hnRNPU","FLJ37978","FLJ30202"],"biotype":"protein_coding","hgnc_id":"HGNC:5048","gene_name":"heterogeneous nuclear ribonucleoprotein U","omim_gene":["602869"],"alias_name":["scaffold attachment factor A"],"gene_symbol":"HNRNPU","hgnc_symbol":"HNRNPU","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:245014468-245027844","ensembl_id":"ENSG00000153187"}},"GRch38":{"90":{"location":"1:244840638-244864560","ensembl_id":"ENSG00000153187"}}},"hgnc_date_symbol_changed":"2007-08-16"},"entity_type":"gene","entity_name":"HNRNPU","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23934111"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["EPILEPTIC ENCEPHALOPATHY"],"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":["SAF-A","hnRNPU","FLJ37978","FLJ30202"],"biotype":"protein_coding","hgnc_id":"HGNC:5048","gene_name":"heterogeneous nuclear ribonucleoprotein U","omim_gene":["602869"],"alias_name":["scaffold attachment factor A"],"gene_symbol":"HNRNPU","hgnc_symbol":"HNRNPU","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:245014468-245027844","ensembl_id":"ENSG00000153187"}},"GRch38":{"90":{"location":"1:244840638-244864560","ensembl_id":"ENSG00000153187"}}},"hgnc_date_symbol_changed":"2007-08-16"},"entity_type":"gene","entity_name":"HNRNPU","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["22190369","25356899","27652284","23708187"],"evidence":["Wessex and West Midlands GLH","NHS GMS","Victorian Clinical Genetics Services","Radboud University Medical Center, Nijmegen","Expert Review Green"],"phenotypes":["Epileptic encephalopathy","Epileptic encephalopathy, early infantile, 54, 617391"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["SAF-A","hnRNPU","FLJ37978","FLJ30202"],"biotype":"protein_coding","hgnc_id":"HGNC:5048","gene_name":"heterogeneous nuclear ribonucleoprotein U","omim_gene":["602869"],"alias_name":["scaffold attachment factor A"],"gene_symbol":"HNRNPU","hgnc_symbol":"HNRNPU","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:245014468-245027844","ensembl_id":"ENSG00000153187"}},"GRch38":{"90":{"location":"1:244840638-244864560","ensembl_id":"ENSG00000153187"}}},"hgnc_date_symbol_changed":"2007-08-16"},"entity_type":"gene","entity_name":"HNRNPU","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["25529582","24896178","23934111","23708187","27652284"],"evidence":["Victorian Clinical Genetics Services","Expert Review Green","Radboud University Medical Center, Nijmegen"],"phenotypes":["Epileptic encephalopathy, early infantile, 54, 617391","intellectual disability"],"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"}]}}]}
