{"count":11,"next":null,"previous":null,"results":[{"gene_data":{"alias":["AADC"],"biotype":"protein_coding","hgnc_id":"HGNC:2719","gene_name":"dopa decarboxylase","omim_gene":["107930"],"alias_name":["aromatic L-amino acid decarboxylase"],"gene_symbol":"DDC","hgnc_symbol":"DDC","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:50526134-50633154","ensembl_id":"ENSG00000132437"}},"GRch38":{"90":{"location":"7:50458436-50565457","ensembl_id":"ENSG00000132437"}}},"hgnc_date_symbol_changed":"1991-06-03"},"entity_type":"gene","entity_name":"DDC","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308","24816252","27830117"],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen","Literature"],"phenotypes":["Aromatic L-amino acid decarboxylase deficiency, 608643"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":219,"hash_id":"56ba025922c1fc5025762b4e","name":"Neurotransmitter disorders","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor Disorders of the CNS","status":"public","version":"1.4","version_created":"2019-06-20T15:15:14.244079Z","relevant_disorders":[],"stats":{"number_of_genes":14,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["AADC"],"biotype":"protein_coding","hgnc_id":"HGNC:2719","gene_name":"dopa decarboxylase","omim_gene":["107930"],"alias_name":["aromatic L-amino acid decarboxylase"],"gene_symbol":"DDC","hgnc_symbol":"DDC","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:50526134-50633154","ensembl_id":"ENSG00000132437"}},"GRch38":{"90":{"location":"7:50458436-50565457","ensembl_id":"ENSG00000132437"}}},"hgnc_date_symbol_changed":"1991-06-03"},"entity_type":"gene","entity_name":"DDC","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Emory Genetics Laboratory"],"phenotypes":["Dystonia"],"mode_of_inheritance":"","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":["AADC"],"biotype":"protein_coding","hgnc_id":"HGNC:2719","gene_name":"dopa decarboxylase","omim_gene":["107930"],"alias_name":["aromatic L-amino acid decarboxylase"],"gene_symbol":"DDC","hgnc_symbol":"DDC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:50526134-50633154","ensembl_id":"ENSG00000132437"}},"GRch38":{"90":{"location":"7:50458436-50565457","ensembl_id":"ENSG00000132437"}}},"hgnc_date_symbol_changed":"1991-06-03"},"entity_type":"gene","entity_name":"DDC","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":["AADC"],"biotype":"protein_coding","hgnc_id":"HGNC:2719","gene_name":"dopa decarboxylase","omim_gene":["107930"],"alias_name":["aromatic L-amino acid decarboxylase"],"gene_symbol":"DDC","hgnc_symbol":"DDC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:50526134-50633154","ensembl_id":"ENSG00000132437"}},"GRch38":{"90":{"location":"7:50458436-50565457","ensembl_id":"ENSG00000132437"}}},"hgnc_date_symbol_changed":"1991-06-03"},"entity_type":"gene","entity_name":"DDC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308","24816252","27830117"],"evidence":["Expert Review Green"],"phenotypes":["Aromatic L-amino acid decarboxylase deficiency, 608643","Dystonia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["AADC"],"biotype":"protein_coding","hgnc_id":"HGNC:2719","gene_name":"dopa decarboxylase","omim_gene":["107930"],"alias_name":["aromatic L-amino acid decarboxylase"],"gene_symbol":"DDC","hgnc_symbol":"DDC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:50526134-50633154","ensembl_id":"ENSG00000132437"}},"GRch38":{"90":{"location":"7:50458436-50565457","ensembl_id":"ENSG00000132437"}}},"hgnc_date_symbol_changed":"1991-06-03"},"entity_type":"gene","entity_name":"DDC","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Yorkshire and North East GLH","NHS GMS","South West GLH"],"phenotypes":["Dystonia"],"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":["AADC"],"biotype":"protein_coding","hgnc_id":"HGNC:2719","gene_name":"dopa decarboxylase","omim_gene":["107930"],"alias_name":["aromatic L-amino acid decarboxylase"],"gene_symbol":"DDC","hgnc_symbol":"DDC","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:50526134-50633154","ensembl_id":"ENSG00000132437"}},"GRch38":{"90":{"location":"7:50458436-50565457","ensembl_id":"ENSG00000132437"}}},"hgnc_date_symbol_changed":"1991-06-03"},"entity_type":"gene","entity_name":"DDC","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308","24816252"],"evidence":["Expert Review Green","UKGTN","Emory Genetics Laboratory","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen","Literature"],"phenotypes":["Aromatic L-amino acid decarboxylase deficiency\t608643"],"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":["AADC"],"biotype":"protein_coding","hgnc_id":"HGNC:2719","gene_name":"dopa decarboxylase","omim_gene":["107930"],"alias_name":["aromatic L-amino acid decarboxylase"],"gene_symbol":"DDC","hgnc_symbol":"DDC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:50526134-50633154","ensembl_id":"ENSG00000132437"}},"GRch38":{"90":{"location":"7:50458436-50565457","ensembl_id":"ENSG00000132437"}}},"hgnc_date_symbol_changed":"1991-06-03"},"entity_type":"gene","entity_name":"DDC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308","24816252"],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Aromatic L-amino acid decarboxylase deficiency"],"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":["AADC"],"biotype":"protein_coding","hgnc_id":"HGNC:2719","gene_name":"dopa decarboxylase","omim_gene":["107930"],"alias_name":["aromatic L-amino acid decarboxylase"],"gene_symbol":"DDC","hgnc_symbol":"DDC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:50526134-50633154","ensembl_id":"ENSG00000132437"}},"GRch38":{"90":{"location":"7:50458436-50565457","ensembl_id":"ENSG00000132437"}}},"hgnc_date_symbol_changed":"1991-06-03"},"entity_type":"gene","entity_name":"DDC","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","PAGE DD-Gene2Phenotype"],"phenotypes":["AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY"],"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":["AADC"],"biotype":"protein_coding","hgnc_id":"HGNC:2719","gene_name":"dopa decarboxylase","omim_gene":["107930"],"alias_name":["aromatic L-amino acid decarboxylase"],"gene_symbol":"DDC","hgnc_symbol":"DDC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:50526134-50633154","ensembl_id":"ENSG00000132437"}},"GRch38":{"90":{"location":"7:50458436-50565457","ensembl_id":"ENSG00000132437"}}},"hgnc_date_symbol_changed":"1991-06-03"},"entity_type":"gene","entity_name":"DDC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20505134"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY 608643"],"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":["AADC"],"biotype":"protein_coding","hgnc_id":"HGNC:2719","gene_name":"dopa decarboxylase","omim_gene":["107930"],"alias_name":["aromatic L-amino acid decarboxylase"],"gene_symbol":"DDC","hgnc_symbol":"DDC","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:50526134-50633154","ensembl_id":"ENSG00000132437"}},"GRch38":{"90":{"location":"7:50458436-50565457","ensembl_id":"ENSG00000132437"}}},"hgnc_date_symbol_changed":"1991-06-03"},"entity_type":"gene","entity_name":"DDC","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["20505134"],"evidence":["Expert Review Green"],"phenotypes":["AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY"],"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":["AADC"],"biotype":"protein_coding","hgnc_id":"HGNC:2719","gene_name":"dopa decarboxylase","omim_gene":["107930"],"alias_name":["aromatic L-amino acid decarboxylase"],"gene_symbol":"DDC","hgnc_symbol":"DDC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:50526134-50633154","ensembl_id":"ENSG00000132437"}},"GRch38":{"90":{"location":"7:50458436-50565457","ensembl_id":"ENSG00000132437"}}},"hgnc_date_symbol_changed":"1991-06-03"},"entity_type":"gene","entity_name":"DDC","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["19172410"],"evidence":["Expert Review Amber","NHS GMS","South West GLH"],"phenotypes":["Aromatic L-amino acid decarboxylase deficiency, 608643","Dystonia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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)"}]}}]}
