{"count":11,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4879","gene_name":"hexosaminidase subunit beta","omim_gene":["606873"],"alias_name":["beta-hexosaminidase subunit beta"],"gene_symbol":"HEXB","hgnc_symbol":"HEXB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:73935848-74018472","ensembl_id":"ENSG00000049860"}},"GRch38":{"90":{"location":"5:74640023-74722647","ensembl_id":"ENSG00000049860"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"HEXB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["Sandhoff disease, infantile, juvenile, and adult forms, 268800"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":477,"hash_id":null,"name":"Ataxia and cerebellar anomalies - narrow panel","disease_group":"","disease_sub_group":"","status":"public","version":"1.7","version_created":"2019-09-20T16:56:48.672242Z","relevant_disorders":[],"stats":{"number_of_genes":199,"number_of_strs":13,"number_of_regions":3},"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:4879","gene_name":"hexosaminidase subunit beta","omim_gene":["606873"],"alias_name":["beta-hexosaminidase subunit beta"],"gene_symbol":"HEXB","hgnc_symbol":"HEXB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:73935848-74018472","ensembl_id":"ENSG00000049860"}},"GRch38":{"90":{"location":"5:74640023-74722647","ensembl_id":"ENSG00000049860"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"HEXB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Wessex and West Midlands GLH","Expert Review Green","North London GLH"],"phenotypes":["Sandhoff disease, infantile, juvenile, and adult forms 268800"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":529,"hash_id":null,"name":"Lysosomal storage disorder","disease_group":"","disease_sub_group":"","status":"public","version":"1.0","version_created":"2019-09-17T11:32:47.666311Z","relevant_disorders":["R276"],"stats":{"number_of_genes":51,"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:4879","gene_name":"hexosaminidase subunit beta","omim_gene":["606873"],"alias_name":["beta-hexosaminidase subunit beta"],"gene_symbol":"HEXB","hgnc_symbol":"HEXB","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:73935848-74018472","ensembl_id":"ENSG00000049860"}},"GRch38":{"90":{"location":"5:74640023-74722647","ensembl_id":"ENSG00000049860"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"HEXB","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","UKGTN"],"phenotypes":["Sandhoff disease, infantile, juvenile, and adult forms, 268800"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":20,"hash_id":"559a7d1022c1fc58ad67fc97","name":"Hereditary ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor Disorders of the CNS","status":"public","version":"1.202","version_created":"2019-06-20T15:15:07.878228Z","relevant_disorders":[],"stats":{"number_of_genes":160,"number_of_strs":14,"number_of_regions":3},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4879","gene_name":"hexosaminidase subunit beta","omim_gene":["606873"],"alias_name":["beta-hexosaminidase subunit beta"],"gene_symbol":"HEXB","hgnc_symbol":"HEXB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:73935848-74018472","ensembl_id":"ENSG00000049860"}},"GRch38":{"90":{"location":"5:74640023-74722647","ensembl_id":"ENSG00000049860"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"HEXB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20798201","24263030"],"evidence":["Wessex and West Midlands GLH","Yorkshire and North East GLH","NHS GMS","London North GLH","Expert Review Green"],"phenotypes":["Sandhoff disease, infantile, juvenile, and adult forms, 268800"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":474,"hash_id":null,"name":"Neurodegenerative disorders - adult onset","disease_group":"","disease_sub_group":"","status":"public","version":"1.106","version_created":"2019-09-20T16:19:10.101841Z","relevant_disorders":["R58"],"stats":{"number_of_genes":395,"number_of_strs":18,"number_of_regions":4},"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:4879","gene_name":"hexosaminidase subunit beta","omim_gene":["606873"],"alias_name":["beta-hexosaminidase subunit beta"],"gene_symbol":"HEXB","hgnc_symbol":"HEXB","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:73935848-74018472","ensembl_id":"ENSG00000049860"}},"GRch38":{"90":{"location":"5:74640023-74722647","ensembl_id":"ENSG00000049860"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"HEXB","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services","Emory Genetics Laboratory","UKGTN","Literature"],"phenotypes":["Sandhoff disease, infantile, juvenile, and adult forms\t268800"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":302,"hash_id":"5763f1518f620350a22bccdb","name":"Undiagnosed metabolic disorders","disease_group":"Metabolic disorders","disease_sub_group":"Specific metabolic abnormalities","status":"public","version":"1.373","version_created":"2019-10-08T14:47:17.153678Z","relevant_disorders":["Undiagnosed Metabolic Panel"],"stats":{"number_of_genes":744,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4879","gene_name":"hexosaminidase subunit beta","omim_gene":["606873"],"alias_name":["beta-hexosaminidase subunit beta"],"gene_symbol":"HEXB","hgnc_symbol":"HEXB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:73935848-74018472","ensembl_id":"ENSG00000049860"}},"GRch38":{"90":{"location":"5:74640023-74722647","ensembl_id":"ENSG00000049860"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"HEXB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308"],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Sandhoff disease, infantile, juvenile, and adult forms, 268800"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":467,"hash_id":null,"name":"Inborn errors of metabolism","disease_group":"","disease_sub_group":"","status":"public","version":"1.348","version_created":"2019-10-09T08:19:52.386941Z","relevant_disorders":["Likely inborn error of metabolism - targeted testing not possible"],"stats":{"number_of_genes":877,"number_of_strs":2,"number_of_regions":1},"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":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4879","gene_name":"hexosaminidase subunit beta","omim_gene":["606873"],"alias_name":["beta-hexosaminidase subunit beta"],"gene_symbol":"HEXB","hgnc_symbol":"HEXB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:73935848-74018472","ensembl_id":"ENSG00000049860"}},"GRch38":{"90":{"location":"5:74640023-74722647","ensembl_id":"ENSG00000049860"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"HEXB","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","PAGE DD-Gene2Phenotype"],"phenotypes":["GM2-GANGLIOSIDOSIS TYPE 2"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:4879","gene_name":"hexosaminidase subunit beta","omim_gene":["606873"],"alias_name":["beta-hexosaminidase subunit beta"],"gene_symbol":"HEXB","hgnc_symbol":"HEXB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:73935848-74018472","ensembl_id":"ENSG00000049860"}},"GRch38":{"90":{"location":"5:74640023-74722647","ensembl_id":"ENSG00000049860"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"HEXB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["571983","9888387","8045559","2921040","3014997","2973515","18758829","7633435","10724","1531140"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["GM2-GANGLIOSIDOSIS TYPE 2 268800"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:4879","gene_name":"hexosaminidase subunit beta","omim_gene":["606873"],"alias_name":["beta-hexosaminidase subunit beta"],"gene_symbol":"HEXB","hgnc_symbol":"HEXB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:73935848-74018472","ensembl_id":"ENSG00000049860"}},"GRch38":{"90":{"location":"5:74640023-74722647","ensembl_id":"ENSG00000049860"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"HEXB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["2967418","21153386","22848519","30075786","28553389","7626071"],"evidence":["Wessex and West Midlands GLH","NHS GMS","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Sandhoff disease, infantile, juvenile, and adult forms, 268800","seizures","myoclonic epilepsy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:4879","gene_name":"hexosaminidase subunit beta","omim_gene":["606873"],"alias_name":["beta-hexosaminidase subunit beta"],"gene_symbol":"HEXB","hgnc_symbol":"HEXB","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:73935848-74018472","ensembl_id":"ENSG00000049860"}},"GRch38":{"90":{"location":"5:74640023-74722647","ensembl_id":"ENSG00000049860"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"HEXB","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green","Radboud University Medical Center, Nijmegen"],"phenotypes":["Sandhoff disease, infantile, juvenile, and adult forms, 268800","GM2-GANGLIOSIDOSIS TYPE 2 (GM2G2)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:4879","gene_name":"hexosaminidase subunit beta","omim_gene":["606873"],"alias_name":["beta-hexosaminidase subunit beta"],"gene_symbol":"HEXB","hgnc_symbol":"HEXB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:73935848-74018472","ensembl_id":"ENSG00000049860"}},"GRch38":{"90":{"location":"5:74640023-74722647","ensembl_id":"ENSG00000049860"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"HEXB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["London North GLH","NHS GMS","Wessex and West Midlands GLH","Expert Review Green","Hereditary ataxia v1.148"],"phenotypes":["Sandhoff disease, infantile, juvenile, and adult forms, 268800","Sandhoff disease, 268800"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":466,"hash_id":null,"name":"Hereditary ataxia - adult onset","disease_group":"","disease_sub_group":"","status":"public","version":"1.211","version_created":"2019-09-20T14:18:40.957460Z","relevant_disorders":["Hereditary ataxia with onset in adulthood","R54"],"stats":{"number_of_genes":236,"number_of_strs":13,"number_of_regions":4},"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."}]}}]}