{"count":7,"next":null,"previous":null,"results":[{"gene_data":{"alias":["FLJ20152","JK1"],"biotype":"protein_coding","hgnc_id":"HGNC:25964","gene_name":"reticulophagy regulator 1","omim_gene":["613114"],"alias_name":null,"gene_symbol":"RETREG1","hgnc_symbol":"RETREG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:16473147-16617167","ensembl_id":"ENSG00000154153"}},"GRch38":{"90":{"location":"5:16473038-16617058","ensembl_id":"ENSG00000154153"}}},"hgnc_date_symbol_changed":"2017-03-16"},"entity_type":"gene","entity_name":"RETREG1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["19838196","24327336"],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen","UKGTN","Emory Genetics Laboratory"],"phenotypes":["Neuropathy, hereditary sensory and autonomic, type IIB\t613115"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":7,"hash_id":"5763f1d68f620350a22bccdc","name":"Familial dysautonomia","disease_group":"","disease_sub_group":"","status":"public","version":"1.7","version_created":"2019-07-09T09:43:16.135987Z","relevant_disorders":[],"stats":{"number_of_genes":22,"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 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":["FLJ20152","JK1"],"biotype":"protein_coding","hgnc_id":"HGNC:25964","gene_name":"reticulophagy regulator 1","omim_gene":["613114"],"alias_name":null,"gene_symbol":"RETREG1","hgnc_symbol":"RETREG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:16473147-16617167","ensembl_id":"ENSG00000154153"}},"GRch38":{"90":{"location":"5:16473038-16617058","ensembl_id":"ENSG00000154153"}}},"hgnc_date_symbol_changed":"2017-03-16"},"entity_type":"gene","entity_name":"RETREG1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["19838196","21115472","24327336"],"evidence":["Expert Review Green","BRIDGE Study Tier 1 Gene"],"phenotypes":["Hereditary sensory and autonomic neuropathy","HSAN 2B","Neuropathy, hereditary sensory and autonomic, type IIB, 613115"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":288,"hash_id":"59621a1c8f62036f45d561a3","name":"Pain syndromes","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Channelopathies","status":"public","version":"1.8","version_created":"2019-10-08T10:46:35.875259Z","relevant_disorders":["neuropathic pain","Pain channelopathies"],"stats":{"number_of_genes":26,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["FLJ20152","JK1"],"biotype":"protein_coding","hgnc_id":"HGNC:25964","gene_name":"reticulophagy regulator 1","omim_gene":["613114"],"alias_name":null,"gene_symbol":"RETREG1","hgnc_symbol":"RETREG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:16473147-16617167","ensembl_id":"ENSG00000154153"}},"GRch38":{"90":{"location":"5:16473038-16617058","ensembl_id":"ENSG00000154153"}}},"hgnc_date_symbol_changed":"2017-03-16"},"entity_type":"gene","entity_name":"RETREG1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["24327336","21115472","19838196"],"evidence":["Expert Review Red","NHS GMS","London North GLH","Wessex and West Midlands GLH"],"phenotypes":["Hereditary sensory and autonomic neuropathy","Neuropathy, hereditary sensory and autonomic, type IIB, 613115","HSAN 2B"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":541,"hash_id":null,"name":"Paroxysmal central nervous system disorders","disease_group":"","disease_sub_group":"","status":"public","version":"0.168","version_created":"2019-10-01T13:39:46.962209Z","relevant_disorders":["Paroxysmal neurological disorders","pain disorders and sleep disorders"],"stats":{"number_of_genes":83,"number_of_strs":5,"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)"}]}},{"gene_data":{"alias":["FLJ20152","JK1"],"biotype":"protein_coding","hgnc_id":"HGNC:25964","gene_name":"reticulophagy regulator 1","omim_gene":["613114"],"alias_name":null,"gene_symbol":"RETREG1","hgnc_symbol":"RETREG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:16473147-16617167","ensembl_id":"ENSG00000154153"}},"GRch38":{"90":{"location":"5:16473038-16617058","ensembl_id":"ENSG00000154153"}}},"hgnc_date_symbol_changed":"2017-03-16"},"entity_type":"gene","entity_name":"RETREG1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","PAGE DD-Gene2Phenotype"],"phenotypes":["NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB"],"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":["FLJ20152","JK1"],"biotype":"protein_coding","hgnc_id":"HGNC:25964","gene_name":"reticulophagy regulator 1","omim_gene":["613114"],"alias_name":null,"gene_symbol":"RETREG1","hgnc_symbol":"RETREG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:16473147-16617167","ensembl_id":"ENSG00000154153"}},"GRch38":{"90":{"location":"5:16473038-16617058","ensembl_id":"ENSG00000154153"}}},"hgnc_date_symbol_changed":"2017-03-16"},"entity_type":"gene","entity_name":"RETREG1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19838196"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB 613115"],"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":["FLJ20152","JK1"],"biotype":"protein_coding","hgnc_id":"HGNC:25964","gene_name":"reticulophagy regulator 1","omim_gene":["613114"],"alias_name":null,"gene_symbol":"RETREG1","hgnc_symbol":"RETREG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:16473147-16617167","ensembl_id":"ENSG00000154153"}},"GRch38":{"90":{"location":"5:16473038-16617058","ensembl_id":"ENSG00000154153"}}},"hgnc_date_symbol_changed":"2017-03-16"},"entity_type":"gene","entity_name":"RETREG1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["30373780","19838196"],"evidence":["South West GLH","NHS GMS","London North GLH","Expert Review Green","Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen","UKGTN","Illumina TruGenome Clinical Sequencing Services","Expert list"],"phenotypes":["Hereditary Sensory and Autonomic Neuropathy, Type II","Hereditary Sensory and Autonomic Neuropathy, Type II","Neuropathy, hereditary sensory and autonomic, type IIB, 613115","Neuropathy, hereditary sensory and autonomic, type IIB, 613115"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["FLJ20152","JK1"],"biotype":"protein_coding","hgnc_id":"HGNC:25964","gene_name":"reticulophagy regulator 1","omim_gene":["613114"],"alias_name":null,"gene_symbol":"RETREG1","hgnc_symbol":"RETREG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:16473147-16617167","ensembl_id":"ENSG00000154153"}},"GRch38":{"90":{"location":"5:16473038-16617058","ensembl_id":"ENSG00000154153"}}},"hgnc_date_symbol_changed":"2017-03-16"},"entity_type":"gene","entity_name":"RETREG1","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Neuropathy, hereditary sensory and autonomic, type IIB, 613115"],"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"}]}}]}