{"count":9,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11276","gene_name":"spectrin beta, non-erythrocytic 2","omim_gene":["604985"],"alias_name":null,"gene_symbol":"SPTBN2","hgnc_symbol":"SPTBN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:66452719-66496697","ensembl_id":"ENSG00000173898"}},"GRch38":{"90":{"location":"11:66685248-66729226","ensembl_id":"ENSG00000173898"}}},"hgnc_date_symbol_changed":"1997-10-16"},"entity_type":"gene","entity_name":"SPTBN2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["Spinocerebellar ataxia 5 (AD)","Spinocerebellar ataxia, autosomal recessive 14","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14","Spinocerebellar Ataxia, Dominant","Spinocerebellar ataxia, autosomal recessive 14 (AR)","Spinocerebellar ataxia 5","SPINOCEREBELLAR ATAXIA 5 (autosomal dominant)"],"mode_of_inheritance":"BOTH monoallelic and 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:11276","gene_name":"spectrin beta, non-erythrocytic 2","omim_gene":["604985"],"alias_name":null,"gene_symbol":"SPTBN2","hgnc_symbol":"SPTBN2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:66452719-66496697","ensembl_id":"ENSG00000173898"}},"GRch38":{"90":{"location":"11:66685248-66729226","ensembl_id":"ENSG00000173898"}}},"hgnc_date_symbol_changed":"1997-10-16"},"entity_type":"gene","entity_name":"SPTBN2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","UKGTN","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Spinocerebellar ataxia 5","Spinocerebellar ataxia, autosomal recessive 14","Spinocerebellar Ataxia, Dominant","SPINOCEREBELLAR ATAXIA 5 (autosomal dominant)","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14"],"mode_of_inheritance":"BOTH monoallelic and 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:11276","gene_name":"spectrin beta, non-erythrocytic 2","omim_gene":["604985"],"alias_name":null,"gene_symbol":"SPTBN2","hgnc_symbol":"SPTBN2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:66452719-66496697","ensembl_id":"ENSG00000173898"}},"GRch38":{"90":{"location":"11:66685248-66729226","ensembl_id":"ENSG00000173898"}}},"hgnc_date_symbol_changed":"1997-10-16"},"entity_type":"gene","entity_name":"SPTBN2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","UKGTN","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory","Other","Eligibility statement prior genetic testing"],"phenotypes":["Spinocerebellar ataxia 5 (AD)","Spinocerebellar ataxia, autosomal recessive 14 (AR)"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":286,"hash_id":"568f871422c1fc1c79ca176d","name":"Cerebellar hypoplasia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor Disorders of the CNS","status":"public","version":"1.39","version_created":"2019-10-07T10:30:38.401018Z","relevant_disorders":["Cerebellar Hypoplasia","Pontine tegmental cap dysplasia"],"stats":{"number_of_genes":66,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11276","gene_name":"spectrin beta, non-erythrocytic 2","omim_gene":["604985"],"alias_name":null,"gene_symbol":"SPTBN2","hgnc_symbol":"SPTBN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:66452719-66496697","ensembl_id":"ENSG00000173898"}},"GRch38":{"90":{"location":"11:66685248-66729226","ensembl_id":"ENSG00000173898"}}},"hgnc_date_symbol_changed":"1997-10-16"},"entity_type":"gene","entity_name":"SPTBN2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Wessex and West Midlands GLH","Yorkshire and North East GLH","NHS GMS","London North GLH"],"phenotypes":["SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14","Spinocerebellar Ataxia, Dominant","Spinocerebellar ataxia, autosomal recessive 14","SPINOCEREBELLAR ATAXIA 5 (autosomal dominant)","Spinocerebellar ataxia 5"],"mode_of_inheritance":"BOTH monoallelic and 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:11276","gene_name":"spectrin beta, non-erythrocytic 2","omim_gene":["604985"],"alias_name":null,"gene_symbol":"SPTBN2","hgnc_symbol":"SPTBN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:66452719-66496697","ensembl_id":"ENSG00000173898"}},"GRch38":{"90":{"location":"11:66685248-66729226","ensembl_id":"ENSG00000173898"}}},"hgnc_date_symbol_changed":"1997-10-16"},"entity_type":"gene","entity_name":"SPTBN2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["29196973","28636205"],"evidence":["Expert Review Red","DD-Gene2Phenotype"],"phenotypes":["SCA14","Infantile ataxia with oculomotor and pyramidal signs","Spinocerebellar ataxia, autosomal recessive 14,  615386"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["watchlist"],"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:11276","gene_name":"spectrin beta, non-erythrocytic 2","omim_gene":["604985"],"alias_name":null,"gene_symbol":"SPTBN2","hgnc_symbol":"SPTBN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:66452719-66496697","ensembl_id":"ENSG00000173898"}},"GRch38":{"90":{"location":"11:66685248-66729226","ensembl_id":"ENSG00000173898"}}},"hgnc_date_symbol_changed":"1997-10-16"},"entity_type":"gene","entity_name":"SPTBN2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25981959","22914369","29795474"],"evidence":["Expert Review Green","DD-Gene2Phenotype"],"phenotypes":["SCA14","Infantile ataxia with oculomotor and pyramidal signs"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["watchlist"],"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:11276","gene_name":"spectrin beta, non-erythrocytic 2","omim_gene":["604985"],"alias_name":null,"gene_symbol":"SPTBN2","hgnc_symbol":"SPTBN2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:66452719-66496697","ensembl_id":"ENSG00000173898"}},"GRch38":{"90":{"location":"11:66685248-66729226","ensembl_id":"ENSG00000173898"}}},"hgnc_date_symbol_changed":"1997-10-16"},"entity_type":"gene","entity_name":"SPTBN2","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["28333917"],"evidence":["NHS GMS","South West GLH","Emory Genetics Laboratory"],"phenotypes":["Hereditary Neuropathies"],"mode_of_inheritance":"","tags":[],"panel":{"id":85,"hash_id":"55ad205422c1fc7041340234","name":"Hereditary neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor and Sensory Disorders of the PNS","status":"public","version":"1.333","version_created":"2019-07-09T13:10:50.031506Z","relevant_disorders":["Charcot-Marie-Tooth disease"],"stats":{"number_of_genes":276,"number_of_strs":11,"number_of_regions":2},"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."}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11276","gene_name":"spectrin beta, non-erythrocytic 2","omim_gene":["604985"],"alias_name":null,"gene_symbol":"SPTBN2","hgnc_symbol":"SPTBN2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"11:66452719-66496697","ensembl_id":"ENSG00000173898"}},"GRch38":{"90":{"location":"11:66685248-66729226","ensembl_id":"ENSG00000173898"}}},"hgnc_date_symbol_changed":"1997-10-16"},"entity_type":"gene","entity_name":"SPTBN2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["23236289","23838597","28636205"],"evidence":["Expert Review Green","Expert Review Green","Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Spinocerebellar ataxia, autosomal recessive 14","MIM:615386","Developmental delay"],"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:11276","gene_name":"spectrin beta, non-erythrocytic 2","omim_gene":["604985"],"alias_name":null,"gene_symbol":"SPTBN2","hgnc_symbol":"SPTBN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:66452719-66496697","ensembl_id":"ENSG00000173898"}},"GRch38":{"90":{"location":"11:66685248-66729226","ensembl_id":"ENSG00000173898"}}},"hgnc_date_symbol_changed":"1997-10-16"},"entity_type":"gene","entity_name":"SPTBN2","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":["Spinocerebellar Ataxia, Dominant","Autosomal recessive spinocerebellar ataxia 14, 615386","Spinocerebellar ataxia, autosomal recessive 14","Spinocerebellar ataxia 5","Spinocerebellar ataxia 5, 600224","SPINOCEREBELLAR ATAXIA 5 (autosomal dominant)","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14"],"mode_of_inheritance":"BOTH monoallelic and 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."}]}}]}