{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":["DRF3","FLJ34705","AN","NSDAN"],"biotype":"protein_coding","hgnc_id":"HGNC:15480","gene_name":"diaphanous related formin 3","omim_gene":["614567"],"alias_name":null,"gene_symbol":"DIAPH3","hgnc_symbol":"DIAPH3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"13:60239717-60738121","ensembl_id":"ENSG00000139734"}},"GRch38":{"90":{"location":"13:59665583-60163987","ensembl_id":"ENSG00000139734"}}},"hgnc_date_symbol_changed":"2001-05-02"},"entity_type":"gene","entity_name":"DIAPH3","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":["20624953","27658576"],"evidence":["Expert Review Amber","Radboud University Medical Center, Nijmegen"],"phenotypes":["Auditory neuropathy, autosomal dominant, 1, 609129"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":260,"hash_id":"55b20bdf22c1fc7dd6b9bbb7","name":"Auditory Neuropathy Spectrum Disorde","disease_group":"Hearing and ear disorders","disease_sub_group":"Non-syndromic hearing loss","status":"public","version":"1.8","version_created":"2019-02-17T23:29:21.469051Z","relevant_disorders":["Auditory Neuropathy Spectrum Disorder","Auditory Neuropathy Spectrum Disorde"],"stats":{"number_of_genes":5,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["DRF3","FLJ34705","AN","NSDAN"],"biotype":"protein_coding","hgnc_id":"HGNC:15480","gene_name":"diaphanous related formin 3","omim_gene":["614567"],"alias_name":null,"gene_symbol":"DIAPH3","hgnc_symbol":"DIAPH3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"13:60239717-60738121","ensembl_id":"ENSG00000139734"}},"GRch38":{"90":{"location":"13:59665583-60163987","ensembl_id":"ENSG00000139734"}}},"hgnc_date_symbol_changed":"2001-05-02"},"entity_type":"gene","entity_name":"DIAPH3","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"Other - please provide details in the comments","publications":["14767582","15520414","18755006","19457867","20624953","20624953","27658576"],"evidence":["Expert Review Amber","Radboud University Medical Center, Nijmegen","UKGTN"],"phenotypes":["Auditory neuropathy, autosomal dominant, 1, 609129"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"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)"}]}}]}
