{"count":6,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4816","gene_name":"histidyl-tRNA synthetase","omim_gene":["142810"],"alias_name":["histidine tRNA ligase 1, cytoplasmic"],"gene_symbol":"HARS","hgnc_symbol":"HARS","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:140052758-140071609","ensembl_id":"ENSG00000170445"}},"GRch38":{"90":{"location":"5:140673173-140692024","ensembl_id":"ENSG00000170445"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"HARS","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Emory Genetics Laboratory"],"phenotypes":["Eye Disorders"],"mode_of_inheritance":"","tags":["new-gene-name"],"panel":{"id":249,"hash_id":"55507b25bb5a161bf644a3b2","name":"Glaucoma (developmental)","disease_group":"Ophthalmological disorders","disease_sub_group":"Anterior segment abnormalities","status":"public","version":"1.5","version_created":"2019-06-20T15:15:07.662717Z","relevant_disorders":[],"stats":{"number_of_genes":224,"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:4816","gene_name":"histidyl-tRNA synthetase","omim_gene":["142810"],"alias_name":["histidine tRNA ligase 1, cytoplasmic"],"gene_symbol":"HARS","hgnc_symbol":"HARS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:140052758-140071609","ensembl_id":"ENSG00000170445"}},"GRch38":{"90":{"location":"5:140673173-140692024","ensembl_id":"ENSG00000170445"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"HARS","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":["22279524"],"evidence":["DD-Gene2Phenotype","Expert Review Red"],"phenotypes":["USHER SYNDROME 614504"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new-gene-name"],"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:4816","gene_name":"histidyl-tRNA synthetase","omim_gene":["142810"],"alias_name":["histidine tRNA ligase 1, cytoplasmic"],"gene_symbol":"HARS","hgnc_symbol":"HARS","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:140052758-140071609","ensembl_id":"ENSG00000170445"}},"GRch38":{"90":{"location":"5:140673173-140692024","ensembl_id":"ENSG00000170445"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"HARS","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","London North GLH","Expert Review Green","Expert list"],"phenotypes":[],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["new-gene-name"],"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:4816","gene_name":"histidyl-tRNA synthetase","omim_gene":["142810"],"alias_name":["histidine tRNA ligase 1, cytoplasmic"],"gene_symbol":"HARS","hgnc_symbol":"HARS","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:140052758-140071609","ensembl_id":"ENSG00000170445"}},"GRch38":{"90":{"location":"5:140673173-140692024","ensembl_id":"ENSG00000170445"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"HARS","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["PMID: 12056811","22279524","22930593","25035493","26072516","2874482","2996334","3464104","7755634"],"evidence":["Expert Review Red","Radboud University Medical Center, Nijmegen","UKGTN"],"phenotypes":["Usher syndrome type 3B, 614504"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new-gene-name"],"panel":{"id":126,"hash_id":"558ac48fbb5a16630dcfeaad","name":"Hearing loss","disease_group":"Hearing and ear disorders","disease_sub_group":"Non-syndromic hearing loss","status":"public","version":"2.2","version_created":"2019-09-03T14:01:56.987667Z","relevant_disorders":["Congenital hearing impairment","Autosomal dominant deafness","Congenital hearing impairment (profound/severe)","R67"],"stats":{"number_of_genes":358,"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."},{"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."},{"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:4816","gene_name":"histidyl-tRNA synthetase","omim_gene":["142810"],"alias_name":["histidine tRNA ligase 1, cytoplasmic"],"gene_symbol":"HARS","hgnc_symbol":"HARS","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:140052758-140071609","ensembl_id":"ENSG00000170445"}},"GRch38":{"90":{"location":"5:140673173-140692024","ensembl_id":"ENSG00000170445"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"HARS","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["Eye Disorders","Usher syndrome type 3B","Usher syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new-gene-name"],"panel":{"id":307,"hash_id":"56e0238b22c1fc09c97a6e46","name":"Retinal disorders","disease_group":"Ophthalmological disorders","disease_sub_group":"Posterior segment abnormalities","status":"public","version":"1.199","version_created":"2019-10-08T09:22:18.436205Z","relevant_disorders":["Posterior segment abnormalities","Cone Dysfunction Syndrome","Developmental macular and foveal dystrophy","Inherited macular dystrophy","Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy","Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy","Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy","Rod Dysfunction Syndrome","Rod-cone dystrophy","Familial exudative vitreoretinopathy","Familial exudative retinopathy","R32","R33","R34","R35"],"stats":{"number_of_genes":320,"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:4816","gene_name":"histidyl-tRNA synthetase","omim_gene":["142810"],"alias_name":["histidine tRNA ligase 1, cytoplasmic"],"gene_symbol":"HARS","hgnc_symbol":"HARS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:140052758-140071609","ensembl_id":"ENSG00000170445"}},"GRch38":{"90":{"location":"5:140673173-140692024","ensembl_id":"ENSG00000170445"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"HARS","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Red"],"phenotypes":["Usher syndrome type 3B, 614504","Charcot-Marie-Tooth disease, axonal, type 2W, 616625","Eye Disorders"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["new-gene-name"],"panel":{"id":509,"hash_id":null,"name":"Structural eye disease","disease_group":"","disease_sub_group":"","status":"public","version":"0.93","version_created":"2019-10-09T13:18:12.923145Z","relevant_disorders":["R36"],"stats":{"number_of_genes":456,"number_of_strs":0,"number_of_regions":2},"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)"}]}}]}
