{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":["SMN","SM-D","HCERN3","SNRNP-N","SNURF-SNRPN","RT-LI"],"biotype":"protein_coding","hgnc_id":"HGNC:11164","gene_name":"small nuclear ribonucleoprotein polypeptide N","omim_gene":["182279"],"alias_name":["tissue-specific splicing protein","SM protein N","small nuclear ribonucleoprotein N"],"gene_symbol":"SNRPN","hgnc_symbol":"SNRPN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:25068794-25223870","ensembl_id":"ENSG00000128739"}},"GRch38":{"90":{"location":"15:24823637-24978723","ensembl_id":"ENSG00000128739"}}},"hgnc_date_symbol_changed":"1992-08-24"},"entity_type":"gene","entity_name":"SNRPN","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["10802660","8723064"],"evidence":["Expert Review Red"],"phenotypes":["Prader-Willi syndrome"],"mode_of_inheritance":"Other - please specifiy in evaluation comments","tags":[],"panel":{"id":465,"hash_id":null,"name":"Neuromuscular disorders","disease_group":"","disease_sub_group":"","status":"public","version":"1.11","version_created":"2019-10-09T12:42:27.875560Z","relevant_disorders":["Other rare neuromuscular disorders; R381"],"stats":{"number_of_genes":245,"number_of_strs":2,"number_of_regions":5},"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":["SMN","SM-D","HCERN3","SNRNP-N","SNURF-SNRPN","RT-LI"],"biotype":"protein_coding","hgnc_id":"HGNC:11164","gene_name":"small nuclear ribonucleoprotein polypeptide N","omim_gene":["182279"],"alias_name":["tissue-specific splicing protein","SM protein N","small nuclear ribonucleoprotein N"],"gene_symbol":"SNRPN","hgnc_symbol":"SNRPN","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:25068794-25223870","ensembl_id":"ENSG00000128739"}},"GRch38":{"90":{"location":"15:24823637-24978723","ensembl_id":"ENSG00000128739"}}},"hgnc_date_symbol_changed":"1992-08-24"},"entity_type":"gene","entity_name":"SNRPN","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"Other - please provide details in the comments","publications":["10802660","8723064"],"evidence":["Expert Review Red","Emory Genetics Laboratory"],"phenotypes":["Prader-Willi syndrome \t176270"],"mode_of_inheritance":"Other - please specifiy in evaluation comments","tags":["currently-ngs-unreportable"],"panel":{"id":79,"hash_id":"5541ef3dbb5a160c33b964e0","name":"Paediatric motor neuronopathies","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor and Sensory Disorders of the PNS","status":"public","version":"1.23","version_created":"2019-06-20T15:15:14.703422Z","relevant_disorders":[],"stats":{"number_of_genes":39,"number_of_strs":1,"number_of_regions":5},"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."}]}}]}