{"count":19,"next":null,"previous":null,"results":[{"gene_data":{"alias":["beta-5"],"biotype":"protein_coding","hgnc_id":"HGNC:20774","gene_name":"tubulin beta 4A class IVa","omim_gene":["602662"],"alias_name":["class IVa beta-tubulin"],"gene_symbol":"TUBB4A","hgnc_symbol":"TUBB4A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"19:6494330-6502859","ensembl_id":"ENSG00000104833"}},"GRch38":{"90":{"location":"19:6494319-6502848","ensembl_id":"ENSG00000104833"}}},"hgnc_date_symbol_changed":"2011-10-10"},"entity_type":"gene","entity_name":"TUBB4A","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27809427"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Complex parkinsonism","Dystonia","?Dystonia 4, torsion, autosomal dominant, 128101","hereditary whispering dysphonia","Dystonia","hypomyelinating leukodystrophy 6"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":39,"hash_id":"58078e6e8f62030e233a8157","name":"Parkinson Disease and Complex Parkinsonism","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neurodegenerative disorders","status":"public","version":"1.66","version_created":"2019-06-20T15:15:15.111993Z","relevant_disorders":["Complex Parkinsonism (includes pallido-pyramidal syndromes)","Early onset and familial Parkinson's Disease"],"stats":{"number_of_genes":57,"number_of_strs":9,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["beta-5"],"biotype":"protein_coding","hgnc_id":"HGNC:20774","gene_name":"tubulin beta 4A class IVa","omim_gene":["602662"],"alias_name":["class IVa beta-tubulin"],"gene_symbol":"TUBB4A","hgnc_symbol":"TUBB4A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"19:6494330-6502859","ensembl_id":"ENSG00000104833"}},"GRch38":{"90":{"location":"19:6494319-6502848","ensembl_id":"ENSG00000104833"}}},"hgnc_date_symbol_changed":"2011-10-10"},"entity_type":"gene","entity_name":"TUBB4A","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27809427"],"evidence":["Expert Review Green","Expert","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Dystonia","?Dystonia 4, torsion, autosomal dominant, 128101","hereditary whispering dysphonia"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":192,"hash_id":"553f95c9bb5a1616e5ed45bf","name":"Early onset dystonia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor Disorders of the CNS","status":"public","version":"1.81","version_created":"2019-09-23T11:22:14.418180Z","relevant_disorders":[],"stats":{"number_of_genes":111,"number_of_strs":4,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["beta-5"],"biotype":"protein_coding","hgnc_id":"HGNC:20774","gene_name":"tubulin beta 4A class IVa","omim_gene":["602662"],"alias_name":["class IVa beta-tubulin"],"gene_symbol":"TUBB4A","hgnc_symbol":"TUBB4A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:6494330-6502859","ensembl_id":"ENSG00000104833"}},"GRch38":{"90":{"location":"19:6494319-6502848","ensembl_id":"ENSG00000104833"}}},"hgnc_date_symbol_changed":"2011-10-10"},"entity_type":"gene","entity_name":"TUBB4A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25655951"],"evidence":["Expert Review Green"],"phenotypes":["Leukodystrophy, hypomyelinating, 6, 612438","General Leukodystrophy & Mitochondrial Leukoencephalopathy","Leukodystrophy, hypomyelinating 6","Dystonia 4, torsion, autosomal dominant, 128101"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":476,"hash_id":null,"name":"White matter disorders and cerebral calcification - narrow panel","disease_group":"","disease_sub_group":"","status":"public","version":"1.9","version_created":"2019-08-08T11:56:25.970239Z","relevant_disorders":[],"stats":{"number_of_genes":191,"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":["beta-5"],"biotype":"protein_coding","hgnc_id":"HGNC:20774","gene_name":"tubulin beta 4A class IVa","omim_gene":["602662"],"alias_name":["class IVa beta-tubulin"],"gene_symbol":"TUBB4A","hgnc_symbol":"TUBB4A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:6494330-6502859","ensembl_id":"ENSG00000104833"}},"GRch38":{"90":{"location":"19:6494319-6502848","ensembl_id":"ENSG00000104833"}}},"hgnc_date_symbol_changed":"2011-10-10"},"entity_type":"gene","entity_name":"TUBB4A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments ","publications":["25497598"],"evidence":["Expert Review Green"],"phenotypes":["Leukodystrophy, hypomyelinating, 6, 612438","Dystonia 4, torsion, autosomal dominant, 128101"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status 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":["beta-5"],"biotype":"protein_coding","hgnc_id":"HGNC:20774","gene_name":"tubulin beta 4A class IVa","omim_gene":["602662"],"alias_name":["class IVa beta-tubulin"],"gene_symbol":"TUBB4A","hgnc_symbol":"TUBB4A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:6494330-6502859","ensembl_id":"ENSG00000104833"}},"GRch38":{"90":{"location":"19:6494319-6502848","ensembl_id":"ENSG00000104833"}}},"hgnc_date_symbol_changed":"2011-10-10"},"entity_type":"gene","entity_name":"TUBB4A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27159321","25527826","28334938","20301621","24357685"],"evidence":["Expert Review Green","NHS GMS","Yorkshire and North East GLH"],"phenotypes":["Leukodystrophy, hypomyelinating, 6, 612438"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":579,"hash_id":null,"name":"White matter disorders - adult onset","disease_group":"","disease_sub_group":"","status":"public","version":"0.21","version_created":"2019-09-13T16:22:23.981754Z","relevant_disorders":["R62"],"stats":{"number_of_genes":77,"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":["beta-5"],"biotype":"protein_coding","hgnc_id":"HGNC:20774","gene_name":"tubulin beta 4A class IVa","omim_gene":["602662"],"alias_name":["class IVa beta-tubulin"],"gene_symbol":"TUBB4A","hgnc_symbol":"TUBB4A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"19:6494330-6502859","ensembl_id":"ENSG00000104833"}},"GRch38":{"90":{"location":"19:6494319-6502848","ensembl_id":"ENSG00000104833"}}},"hgnc_date_symbol_changed":"2011-10-10"},"entity_type":"gene","entity_name":"TUBB4A","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"Other - please provide details in the comments ","publications":["25497598"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Leukodystrophy, hypomyelinating, 6, 612438","Dystonia 4, torsion, autosomal dominant, 128101"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["beta-5"],"biotype":"protein_coding","hgnc_id":"HGNC:20774","gene_name":"tubulin beta 4A class IVa","omim_gene":["602662"],"alias_name":["class IVa beta-tubulin"],"gene_symbol":"TUBB4A","hgnc_symbol":"TUBB4A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"19:6494330-6502859","ensembl_id":"ENSG00000104833"}},"GRch38":{"90":{"location":"19:6494319-6502848","ensembl_id":"ENSG00000104833"}}},"hgnc_date_symbol_changed":"2011-10-10"},"entity_type":"gene","entity_name":"TUBB4A","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["23582646","24850488","24526230"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Leukodystrophy, hypomyelinating, 6 612438"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":180,"hash_id":"56ba024322c1fc5025762b4d","name":"Structural basal ganglia disorders","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor Disorders of the CNS","status":"public","version":"1.17","version_created":"2019-09-04T09:40:29.765078Z","relevant_disorders":[],"stats":{"number_of_genes":76,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["beta-5"],"biotype":"protein_coding","hgnc_id":"HGNC:20774","gene_name":"tubulin beta 4A class IVa","omim_gene":["602662"],"alias_name":["class IVa beta-tubulin"],"gene_symbol":"TUBB4A","hgnc_symbol":"TUBB4A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:6494330-6502859","ensembl_id":"ENSG00000104833"}},"GRch38":{"90":{"location":"19:6494319-6502848","ensembl_id":"ENSG00000104833"}}},"hgnc_date_symbol_changed":"2011-10-10"},"entity_type":"gene","entity_name":"TUBB4A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27809427","24526230","24850488","23582646"],"evidence":["Expert Review Green"],"phenotypes":["?Dystonia 4, torsion, autosomal dominant, 128101","Dystonia","hereditary whispering dysphonia","Leukodystrophy, hypomyelinating, 6 612438"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":475,"hash_id":null,"name":"Dystonia - childhood onset","disease_group":"","disease_sub_group":"","status":"public","version":"1.8","version_created":"2019-09-09T13:17:58.240159Z","relevant_disorders":[],"stats":{"number_of_genes":176,"number_of_strs":7,"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)"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["beta-5"],"biotype":"protein_coding","hgnc_id":"HGNC:20774","gene_name":"tubulin beta 4A class IVa","omim_gene":["602662"],"alias_name":["class IVa beta-tubulin"],"gene_symbol":"TUBB4A","hgnc_symbol":"TUBB4A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"19:6494330-6502859","ensembl_id":"ENSG00000104833"}},"GRch38":{"90":{"location":"19:6494319-6502848","ensembl_id":"ENSG00000104833"}}},"hgnc_date_symbol_changed":"2011-10-10"},"entity_type":"gene","entity_name":"TUBB4A","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["25655951"],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen"],"phenotypes":["Dystonia 4, torsion, autosomal dominant, 128101","Leukodystrophy, hypomyelinating, 6, 612438","Leukodystrophy, hypomyelinating 6","General Leukodystrophy & Mitochondrial Leukoencephalopathy"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":42,"hash_id":"568f920822c1fc1c79ca177a","name":"Inherited white matter disorders","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"White matter disorders","status":"public","version":"1.71","version_created":"2019-08-08T12:01:29.978699Z","relevant_disorders":["Leukodystrophy - adult onset"],"stats":{"number_of_genes":166,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["beta-5"],"biotype":"protein_coding","hgnc_id":"HGNC:20774","gene_name":"tubulin beta 4A class IVa","omim_gene":["602662"],"alias_name":["class IVa beta-tubulin"],"gene_symbol":"TUBB4A","hgnc_symbol":"TUBB4A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"19:6494330-6502859","ensembl_id":"ENSG00000104833"}},"GRch38":{"90":{"location":"19:6494319-6502848","ensembl_id":"ENSG00000104833"}}},"hgnc_date_symbol_changed":"2011-10-10"},"entity_type":"gene","entity_name":"TUBB4A","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Dystonia 4, torsion, autosomal dominant \t128101","Leukodystrophy, hypomyelinating, 6 \t612438","ataxia"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":165,"hash_id":"55ad019f22c1fc7042059038","name":"Hereditary spastic paraplegia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor Disorders of the CNS","status":"public","version":"1.205","version_created":"2019-06-20T15:15:08.031188Z","relevant_disorders":[],"stats":{"number_of_genes":109,"number_of_strs":10,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["beta-5"],"biotype":"protein_coding","hgnc_id":"HGNC:20774","gene_name":"tubulin beta 4A class IVa","omim_gene":["602662"],"alias_name":["class IVa beta-tubulin"],"gene_symbol":"TUBB4A","hgnc_symbol":"TUBB4A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:6494330-6502859","ensembl_id":"ENSG00000104833"}},"GRch38":{"90":{"location":"19:6494319-6502848","ensembl_id":"ENSG00000104833"}}},"hgnc_date_symbol_changed":"2011-10-10"},"entity_type":"gene","entity_name":"TUBB4A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Yorkshire and North East GLH","NHS GMS","London North GLH","Expert Review Green","Expert Review"],"phenotypes":["Leukodystrophy, hypomyelinating, 6 612438","ataxia","Dystonia 4, torsion, autosomal dominant 128101"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":568,"hash_id":null,"name":"Hereditary spastic paraplegia - childhood onset","disease_group":"","disease_sub_group":"","status":"public","version":"1.179","version_created":"2019-09-30T12:40:08.803161Z","relevant_disorders":["Childhood onset hereditary spastic paraplegia;R61"],"stats":{"number_of_genes":98,"number_of_strs":10,"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":["beta-5"],"biotype":"protein_coding","hgnc_id":"HGNC:20774","gene_name":"tubulin beta 4A class IVa","omim_gene":["602662"],"alias_name":["class IVa beta-tubulin"],"gene_symbol":"TUBB4A","hgnc_symbol":"TUBB4A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:6494330-6502859","ensembl_id":"ENSG00000104833"}},"GRch38":{"90":{"location":"19:6494319-6502848","ensembl_id":"ENSG00000104833"}}},"hgnc_date_symbol_changed":"2011-10-10"},"entity_type":"gene","entity_name":"TUBB4A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Yorkshire and North East GLH","Expert Review Green","NHS GMS","London North GLH"],"phenotypes":["Dystonia 4, torsion, autosomal dominant, 128101","ataxia","Leukodystrophy, hypomyelinating, 612438 AD"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":567,"hash_id":null,"name":"Hereditary spastic paraplegia - adult onset","disease_group":"","disease_sub_group":"","status":"public","version":"0.156","version_created":"2019-09-30T12:38:14.427158Z","relevant_disorders":["R60"],"stats":{"number_of_genes":97,"number_of_strs":10,"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":["beta-5"],"biotype":"protein_coding","hgnc_id":"HGNC:20774","gene_name":"tubulin beta 4A class IVa","omim_gene":["602662"],"alias_name":["class IVa beta-tubulin"],"gene_symbol":"TUBB4A","hgnc_symbol":"TUBB4A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:6494330-6502859","ensembl_id":"ENSG00000104833"}},"GRch38":{"90":{"location":"19:6494319-6502848","ensembl_id":"ENSG00000104833"}}},"hgnc_date_symbol_changed":"2011-10-10"},"entity_type":"gene","entity_name":"TUBB4A","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"Other","publications":["25374358","27809427","25497598"],"evidence":["Expert Review Amber","Wessex and West Midlands GLH","Yorkshire and North East GLH","NHS GMS","London North GLH"],"phenotypes":["Leukodystrophy, hypomyelinating, 6 612438","?Dystonia 4, torsion, autosomal dominant, 128101","hypomyelinating leukodystrophy 6","Implicated autosomal dominant variants in two families with ataxia","Dystonia","Torsion dystonia 4 (128101) - some individuals with ataxia","ataxia","hereditary whispering dysphonia","Complex parkinsonism","hypomyelinating leukodystrophy 6 (612438) - ataxia reported.","Dystonia 4, torsion, autosomal dominant 128101"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["beta-5"],"biotype":"protein_coding","hgnc_id":"HGNC:20774","gene_name":"tubulin beta 4A class IVa","omim_gene":["602662"],"alias_name":["class IVa beta-tubulin"],"gene_symbol":"TUBB4A","hgnc_symbol":"TUBB4A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:6494330-6502859","ensembl_id":"ENSG00000104833"}},"GRch38":{"90":{"location":"19:6494319-6502848","ensembl_id":"ENSG00000104833"}}},"hgnc_date_symbol_changed":"2011-10-10"},"entity_type":"gene","entity_name":"TUBB4A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","PAGE DD-Gene2Phenotype"],"phenotypes":["HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM"],"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":["beta-5"],"biotype":"protein_coding","hgnc_id":"HGNC:20774","gene_name":"tubulin beta 4A class IVa","omim_gene":["602662"],"alias_name":["class IVa beta-tubulin"],"gene_symbol":"TUBB4A","hgnc_symbol":"TUBB4A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:6494330-6502859","ensembl_id":"ENSG00000104833"}},"GRch38":{"90":{"location":"19:6494319-6502848","ensembl_id":"ENSG00000104833"}}},"hgnc_date_symbol_changed":"2011-10-10"},"entity_type":"gene","entity_name":"TUBB4A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":["23582646"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM"],"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":["beta-5"],"biotype":"protein_coding","hgnc_id":"HGNC:20774","gene_name":"tubulin beta 4A class IVa","omim_gene":["602662"],"alias_name":["class IVa beta-tubulin"],"gene_symbol":"TUBB4A","hgnc_symbol":"TUBB4A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:6494330-6502859","ensembl_id":"ENSG00000104833"}},"GRch38":{"90":{"location":"19:6494319-6502848","ensembl_id":"ENSG00000104833"}}},"hgnc_date_symbol_changed":"2011-10-10"},"entity_type":"gene","entity_name":"TUBB4A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["24742798","26643067"],"evidence":["Wessex and West Midlands GLH","NHS GMS","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Leukodystrophy, hypomyelinating, 6, 612438"],"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":["beta-5"],"biotype":"protein_coding","hgnc_id":"HGNC:20774","gene_name":"tubulin beta 4A class IVa","omim_gene":["602662"],"alias_name":["class IVa beta-tubulin"],"gene_symbol":"TUBB4A","hgnc_symbol":"TUBB4A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"19:6494330-6502859","ensembl_id":"ENSG00000104833"}},"GRch38":{"90":{"location":"19:6494319-6502848","ensembl_id":"ENSG00000104833"}}},"hgnc_date_symbol_changed":"2011-10-10"},"entity_type":"gene","entity_name":"TUBB4A","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["23582646"],"evidence":["Expert Review Green"],"phenotypes":["HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM (H-ABC)"],"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"}]}},{"gene_data":{"alias":["beta-5"],"biotype":"protein_coding","hgnc_id":"HGNC:20774","gene_name":"tubulin beta 4A class IVa","omim_gene":["602662"],"alias_name":["class IVa beta-tubulin"],"gene_symbol":"TUBB4A","hgnc_symbol":"TUBB4A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:6494330-6502859","ensembl_id":"ENSG00000104833"}},"GRch38":{"90":{"location":"19:6494319-6502848","ensembl_id":"ENSG00000104833"}}},"hgnc_date_symbol_changed":"2011-10-10"},"entity_type":"gene","entity_name":"TUBB4A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":["25497598"],"evidence":["London North GLH","NHS GMS","Wessex and West Midlands GLH","Expert Review Green","Hereditary ataxia v1.148"],"phenotypes":["Dystonia 4, torsion, autosomal dominant, 128101","Dystonia 4, 128101, Hypomyelinating leukodystrophy 6, 612438","Leukodystrophy, hypomyelinating, 6, 612438"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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."}]}},{"gene_data":{"alias":["beta-5"],"biotype":"protein_coding","hgnc_id":"HGNC:20774","gene_name":"tubulin beta 4A class IVa","omim_gene":["602662"],"alias_name":["class IVa beta-tubulin"],"gene_symbol":"TUBB4A","hgnc_symbol":"TUBB4A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:6494330-6502859","ensembl_id":"ENSG00000104833"}},"GRch38":{"90":{"location":"19:6494319-6502848","ensembl_id":"ENSG00000104833"}}},"hgnc_date_symbol_changed":"2011-10-10"},"entity_type":"gene","entity_name":"TUBB4A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27809427","24526230","24850488","23582646"],"evidence":["NHS GMS","London North GLH","Expert Review Green"],"phenotypes":["Complex parkinsonism","hypomyelinating leukodystrophy 6","?Dystonia 4, torsion, autosomal dominant, 128101","Dystonia","hereditary whispering dysphonia"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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)"}]}}]}
