{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":["FLJ10466"],"biotype":"protein_coding","hgnc_id":"HGNC:16406","gene_name":"EF-hand domain containing 1","omim_gene":["608815"],"alias_name":["myoclonin-1"],"gene_symbol":"EFHC1","hgnc_symbol":"EFHC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:52285106-52387892","ensembl_id":"ENSG00000096093"}},"GRch38":{"90":{"location":"6:52362123-52529886","ensembl_id":"ENSG00000096093"}}},"hgnc_date_symbol_changed":"2001-08-21"},"entity_type":"gene","entity_name":"EFHC1","confidence_level":"2","penetrance":"Incomplete","mode_of_pathogenicity":null,"publications":["17159113","18505993","15258581","19147686","28370826","29750216","31056551"],"evidence":["Expert Review Amber","Wessex and West Midlands GLH","NHS GMS","NIHRBR-RD Consortium SPEED_v3.0_20170404","Expert list","Literature"],"phenotypes":["{Epilepsy, juvenile absence, susceptibility to, 1} 607631","{Myoclonic epilepsy, juvenile, susceptibility to, 1} 254770"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["FLJ10466"],"biotype":"protein_coding","hgnc_id":"HGNC:16406","gene_name":"EF-hand domain containing 1","omim_gene":["608815"],"alias_name":["myoclonin-1"],"gene_symbol":"EFHC1","hgnc_symbol":"EFHC1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:52285106-52387892","ensembl_id":"ENSG00000096093"}},"GRch38":{"90":{"location":"6:52362123-52529886","ensembl_id":"ENSG00000096093"}}},"hgnc_date_symbol_changed":"2001-08-21"},"entity_type":"gene","entity_name":"EFHC1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["28475290"],"evidence":["Expert Review Red","Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["{Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770","{Epilepsy, juvenile absence, susceptibility to, 1}, 607631"],"mode_of_inheritance":"Unknown","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"}]}}]}