{"count":8,"next":null,"previous":null,"results":[{"gene_data":{"alias":["NIMP"],"biotype":"protein_coding","hgnc_id":"HGNC:18647","gene_name":"reticulon 4 interacting protein 1","omim_gene":["610502"],"alias_name":null,"gene_symbol":"RTN4IP1","hgnc_symbol":"RTN4IP1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:107018903-107077373","ensembl_id":"ENSG00000130347"}},"GRch38":{"90":{"location":"6:106571971-106629487","ensembl_id":"ENSG00000130347"}}},"hgnc_date_symbol_changed":"2002-05-23"},"entity_type":"gene","entity_name":"RTN4IP1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["26593267"],"evidence":["London North GLH","Expert Review Green","Literature"],"phenotypes":["early-onset recessive optic neuropathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":186,"hash_id":"553f95e2bb5a1616e5ed45c8","name":"Optic neuropathy","disease_group":"Ophthalmological disorders","disease_sub_group":"Posterior segment abnormalities","status":"public","version":"2.0","version_created":"2019-10-02T14:24:42.288499Z","relevant_disorders":["Inherited optic neuropathies","R41","R42.2"],"stats":{"number_of_genes":48,"number_of_strs":0,"number_of_regions":0},"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":"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":["NIMP"],"biotype":"protein_coding","hgnc_id":"HGNC:18647","gene_name":"reticulon 4 interacting protein 1","omim_gene":["610502"],"alias_name":null,"gene_symbol":"RTN4IP1","hgnc_symbol":"RTN4IP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:107018903-107077373","ensembl_id":"ENSG00000130347"}},"GRch38":{"90":{"location":"6:106571971-106629487","ensembl_id":"ENSG00000130347"}}},"hgnc_date_symbol_changed":"2002-05-23"},"entity_type":"gene","entity_name":"RTN4IP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28638143","26593267","29181510"],"evidence":["Expert Review Green","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Optic atrophy 10 with or without ataxia, mental retardation, and seizures 616732"],"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":["NIMP"],"biotype":"protein_coding","hgnc_id":"HGNC:18647","gene_name":"reticulon 4 interacting protein 1","omim_gene":["610502"],"alias_name":null,"gene_symbol":"RTN4IP1","hgnc_symbol":"RTN4IP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:107018903-107077373","ensembl_id":"ENSG00000130347"}},"GRch38":{"90":{"location":"6:106571971-106629487","ensembl_id":"ENSG00000130347"}}},"hgnc_date_symbol_changed":"2002-05-23"},"entity_type":"gene","entity_name":"RTN4IP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":539,"hash_id":null,"name":"Possible mitochondrial disorder - nuclear genes","disease_group":"","disease_sub_group":"","status":"public","version":"1.12","version_created":"2019-09-16T14:57:01.996850Z","relevant_disorders":["R63"],"stats":{"number_of_genes":374,"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":["NIMP"],"biotype":"protein_coding","hgnc_id":"HGNC:18647","gene_name":"reticulon 4 interacting protein 1","omim_gene":["610502"],"alias_name":null,"gene_symbol":"RTN4IP1","hgnc_symbol":"RTN4IP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:107018903-107077373","ensembl_id":"ENSG00000130347"}},"GRch38":{"90":{"location":"6:106571971-106629487","ensembl_id":"ENSG00000130347"}}},"hgnc_date_symbol_changed":"2002-05-23"},"entity_type":"gene","entity_name":"RTN4IP1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","PAGE DD-Gene2Phenotype"],"phenotypes":["EARLY-ONSET RECESSIVE OPTIC NEUROPATHY"],"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":["NIMP"],"biotype":"protein_coding","hgnc_id":"HGNC:18647","gene_name":"reticulon 4 interacting protein 1","omim_gene":["610502"],"alias_name":null,"gene_symbol":"RTN4IP1","hgnc_symbol":"RTN4IP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:107018903-107077373","ensembl_id":"ENSG00000130347"}},"GRch38":{"90":{"location":"6:106571971-106629487","ensembl_id":"ENSG00000130347"}}},"hgnc_date_symbol_changed":"2002-05-23"},"entity_type":"gene","entity_name":"RTN4IP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26593267"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["EARLY-ONSET RECESSIVE OPTIC NEUROPATHY"],"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":["NIMP"],"biotype":"protein_coding","hgnc_id":"HGNC:18647","gene_name":"reticulon 4 interacting protein 1","omim_gene":["610502"],"alias_name":null,"gene_symbol":"RTN4IP1","hgnc_symbol":"RTN4IP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:107018903-107077373","ensembl_id":"ENSG00000130347"}},"GRch38":{"90":{"location":"6:106571971-106629487","ensembl_id":"ENSG00000130347"}}},"hgnc_date_symbol_changed":"2002-05-23"},"entity_type":"gene","entity_name":"RTN4IP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29181510","26593267"],"evidence":["Wessex and West Midlands GLH","NHS GMS","Expert Review Green","Expert Review"],"phenotypes":["Optic atrophy 10 with or without ataxia, mental retardation, and seizures 616732"],"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":["NIMP"],"biotype":"protein_coding","hgnc_id":"HGNC:18647","gene_name":"reticulon 4 interacting protein 1","omim_gene":["610502"],"alias_name":null,"gene_symbol":"RTN4IP1","hgnc_symbol":"RTN4IP1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:107018903-107077373","ensembl_id":"ENSG00000130347"}},"GRch38":{"90":{"location":"6:106571971-106629487","ensembl_id":"ENSG00000130347"}}},"hgnc_date_symbol_changed":"2002-05-23"},"entity_type":"gene","entity_name":"RTN4IP1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["5529582","29181510","26593267"],"evidence":["Expert Review Green","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Optic atrophy 10, with or without ataxia, mental retardation, and seizures"],"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":["NIMP"],"biotype":"protein_coding","hgnc_id":"HGNC:18647","gene_name":"reticulon 4 interacting protein 1","omim_gene":["610502"],"alias_name":null,"gene_symbol":"RTN4IP1","hgnc_symbol":"RTN4IP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:107018903-107077373","ensembl_id":"ENSG00000130347"}},"GRch38":{"90":{"location":"6:106571971-106629487","ensembl_id":"ENSG00000130347"}}},"hgnc_date_symbol_changed":"2002-05-23"},"entity_type":"gene","entity_name":"RTN4IP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["26593267","29181510","28638143"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Optic atrophy 10 with or without ataxia, mental retardation, and seizures 616732"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":112,"hash_id":"55928cf522c1fc4f7d26e960","name":"Mitochondrial disorders","disease_group":"Metabolic disorders","disease_sub_group":"Mitochondrial","status":"public","version":"2.1","version_created":"2019-10-01T15:59:44.993681Z","relevant_disorders":["Lactic acidosis","All recognised syndromes and those with suggestive features"],"stats":{"number_of_genes":467,"number_of_strs":2,"number_of_regions":1},"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"},{"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."}]}}]}