{"count":6,"next":null,"previous":null,"results":[{"gene_data":{"alias":["D6S504E","ATX1"],"biotype":"protein_coding","hgnc_id":"HGNC:10548","gene_name":"ataxin 1","omim_gene":["601556"],"alias_name":null,"gene_symbol":"ATXN1","hgnc_symbol":"ATXN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:16299343-16761722","ensembl_id":"ENSG00000124788"}},"GRch38":{"90":{"location":"6:16299112-16761491","ensembl_id":"ENSG00000124788"}}},"hgnc_date_symbol_changed":"2004-08-13"},"entity_type":"gene","entity_name":"ATXN1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":[],"evidence":["Expert Review Red"],"phenotypes":["Spinocerebellarataxia1,164400"],"mode_of_inheritance":"Unknown","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":["D6S504E","ATX1"],"biotype":"protein_coding","hgnc_id":"HGNC:10548","gene_name":"ataxin 1","omim_gene":["601556"],"alias_name":null,"gene_symbol":"ATXN1","hgnc_symbol":"ATXN1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:16299343-16761722","ensembl_id":"ENSG00000124788"}},"GRch38":{"90":{"location":"6:16299112-16761491","ensembl_id":"ENSG00000124788"}}},"hgnc_date_symbol_changed":"2004-08-13"},"entity_type":"gene","entity_name":"ATXN1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"Other - please provide details in the comments","publications":[],"evidence":["Expert Review Red","Eligibility statement prior genetic testing","Radboud University Medical Center, Nijmegen","UKGTN"],"phenotypes":["Spinocerebellarataxia1,164400"],"mode_of_inheritance":"","tags":["currently-ngs-unreportable","nucleotide-repeat-expansion"],"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":["D6S504E","ATX1"],"biotype":"protein_coding","hgnc_id":"HGNC:10548","gene_name":"ataxin 1","omim_gene":["601556"],"alias_name":null,"gene_symbol":"ATXN1","hgnc_symbol":"ATXN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:16299343-16761722","ensembl_id":"ENSG00000124788"}},"GRch38":{"90":{"location":"6:16299112-16761491","ensembl_id":"ENSG00000124788"}}},"hgnc_date_symbol_changed":"2004-08-13"},"entity_type":"gene","entity_name":"ATXN1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Yorkshire and North East GLH","NHS GMS","South West GLH","Expert Review Red"],"phenotypes":["Spinocerebellarataxia1,164400"],"mode_of_inheritance":"Unknown","tags":["nucleotide-repeat-expansion","currently-ngs-unreportable"],"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":["D6S504E","ATX1"],"biotype":"protein_coding","hgnc_id":"HGNC:10548","gene_name":"ataxin 1","omim_gene":["601556"],"alias_name":null,"gene_symbol":"ATXN1","hgnc_symbol":"ATXN1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:16299343-16761722","ensembl_id":"ENSG00000124788"}},"GRch38":{"90":{"location":"6:16299112-16761491","ensembl_id":"ENSG00000124788"}}},"hgnc_date_symbol_changed":"2004-08-13"},"entity_type":"gene","entity_name":"ATXN1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["11973625","11455183","24896178"],"evidence":["Expert Review Red","Literature","Expert Review Amber"],"phenotypes":["Spinocerebellar ataxia 1 164400"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["currently-ngs-unreportable","nucleotide-repeat-expansion"],"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":["D6S504E","ATX1"],"biotype":"protein_coding","hgnc_id":"HGNC:10548","gene_name":"ataxin 1","omim_gene":["601556"],"alias_name":null,"gene_symbol":"ATXN1","hgnc_symbol":"ATXN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:16299343-16761722","ensembl_id":"ENSG00000124788"}},"GRch38":{"90":{"location":"6:16299112-16761491","ensembl_id":"ENSG00000124788"}}},"hgnc_date_symbol_changed":"2004-08-13"},"entity_type":"gene","entity_name":"ATXN1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":[],"evidence":["NHS GMS","Wessex and West Midlands GLH","Expert Review Red","Hereditary ataxia v1.148"],"phenotypes":["Spinocerebellar ataxia 1, 164400","Spinocerebellarataxia1,164400"],"mode_of_inheritance":"Unknown","tags":["nucleotide-repeat-expansion","currently-ngs-unreportable"],"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."}]}},{"gene_data":{"alias":["D6S504E","ATX1"],"biotype":"protein_coding","hgnc_id":"HGNC:10548","gene_name":"ataxin 1","omim_gene":["601556"],"alias_name":null,"gene_symbol":"ATXN1","hgnc_symbol":"ATXN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:16299343-16761722","ensembl_id":"ENSG00000124788"}},"GRch38":{"90":{"location":"6:16299112-16761491","ensembl_id":"ENSG00000124788"}}},"hgnc_date_symbol_changed":"2004-08-13"},"entity_type":"gene","entity_name":"ATXN1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","London North GLH"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":540,"hash_id":null,"name":"Adult onset movement disorder","disease_group":"","disease_sub_group":"","status":"public","version":"0.125","version_created":"2019-09-29T14:25:05.513850Z","relevant_disorders":["R56"],"stats":{"number_of_genes":202,"number_of_strs":11,"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)"}]}}]}