{"count":3,"next":null,"previous":null,"results":[{"gene_data":{"alias":["RZF"],"biotype":"protein_coding","hgnc_id":"HGNC:10057","gene_name":"ring finger protein 13","omim_gene":["609247"],"alias_name":null,"gene_symbol":"RNF13","hgnc_symbol":"RNF13","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:149530495-149679926","ensembl_id":"ENSG00000082996"}},"GRch38":{"90":{"location":"3:149812708-149962139","ensembl_id":"ENSG00000082996"}}},"hgnc_date_symbol_changed":"1999-10-19"},"entity_type":"gene","entity_name":"RNF13","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":["30595371"],"evidence":["Expert Review Amber","DD-Gene2Phenotype"],"phenotypes":["Congenital Microcephaly Epileptic Encephalopathy Blindness and Failure to Thrive"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["RZF"],"biotype":"protein_coding","hgnc_id":"HGNC:10057","gene_name":"ring finger protein 13","omim_gene":["609247"],"alias_name":null,"gene_symbol":"RNF13","hgnc_symbol":"RNF13","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:149530495-149679926","ensembl_id":"ENSG00000082996"}},"GRch38":{"90":{"location":"3:149812708-149962139","ensembl_id":"ENSG00000082996"}}},"hgnc_date_symbol_changed":"1999-10-19"},"entity_type":"gene","entity_name":"RNF13","confidence_level":"2","penetrance":"unknown","mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - 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