{"count":5,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6990","gene_name":"methyl-CpG binding protein 2","omim_gene":["300005"],"alias_name":null,"gene_symbol":"MECP2","hgnc_symbol":"MECP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153287024-153363212","ensembl_id":"ENSG00000169057"}},"GRch38":{"90":{"location":"X:154021573-154137103","ensembl_id":"ENSG00000169057"}}},"hgnc_date_symbol_changed":"1996-09-03"},"entity_type":"gene","entity_name":"MECP2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["20212079","26185613","23042784","24267887","26166478","25989142","24090431","24581740","26167905","23999528","25294932"],"evidence":["Expert Review Amber","SFARI"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":657,"hash_id":null,"name":"Autism","disease_group":"","disease_sub_group":"","status":"public","version":"0.15","version_created":"2019-06-20T15:10:14.437740Z","relevant_disorders":[],"stats":{"number_of_genes":733,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Research","slug":"research","description":"This is a gene panel used for research."}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6990","gene_name":"methyl-CpG binding protein 2","omim_gene":["300005"],"alias_name":null,"gene_symbol":"MECP2","hgnc_symbol":"MECP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153287024-153363212","ensembl_id":"ENSG00000169057"}},"GRch38":{"90":{"location":"X:154021573-154137103","ensembl_id":"ENSG00000169057"}}},"hgnc_date_symbol_changed":"1996-09-03"},"entity_type":"gene","entity_name":"MECP2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["30712880"],"evidence":["Expert Review Red","PAGE DD-Gene2Phenotype"],"phenotypes":["ENCEPHALOPATHY NEONATAL SEVERE DUE TO MECP2 MUTATIONS","MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 13","MENTAL RETARDATION SYNDROMIC X-LINKED LUBS TYPE","CHROMOSOME XQ28 DUPLICATION SYNDROME","RETT SYNDROME (RTT)["],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":478,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","status":"public","version":"0.344","version_created":"2019-09-17T09:38:10.568007Z","relevant_disorders":["R21"],"stats":{"number_of_genes":1721,"number_of_strs":0,"number_of_regions":0},"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."}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6990","gene_name":"methyl-CpG binding protein 2","omim_gene":["300005"],"alias_name":null,"gene_symbol":"MECP2","hgnc_symbol":"MECP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153287024-153363212","ensembl_id":"ENSG00000169057"}},"GRch38":{"90":{"location":"X:154021573-154137103","ensembl_id":"ENSG00000169057"}}},"hgnc_date_symbol_changed":"1996-09-03"},"entity_type":"gene","entity_name":"MECP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11402105","11238684","29618507"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["MENTAL RETARDATION SYNDROMIC X-LINKED LUBS TYPE 300260","MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 13 300055","CHROMOSOME XQ28 DUPLICATION SYNDROME 300815","ENCEPHALOPATHY NEONATAL SEVERE DUE TO MECP2 MUTATIONS 300673","RETT SYNDROME (RTT)[ 312750"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:6990","gene_name":"methyl-CpG binding protein 2","omim_gene":["300005"],"alias_name":null,"gene_symbol":"MECP2","hgnc_symbol":"MECP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153287024-153363212","ensembl_id":"ENSG00000169057"}},"GRch38":{"90":{"location":"X:154021573-154137103","ensembl_id":"ENSG00000169057"}}},"hgnc_date_symbol_changed":"1996-09-03"},"entity_type":"gene","entity_name":"MECP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["Wan et al (1999) Am J Hum Genet 5: 1520_1529","Jedele (2007) Seminars in Pediatric Neurology 14(3)108-117","Ramocki et al (2009) Am J Med Genet Part A 152A: 1079_1088","Couvert et al (2001) Hum Mol Genet 10(9): 941-946"],"evidence":["Wessex and West Midlands GLH","NHS GMS","Victorian Clinical Genetics Services","Radboud University Medical Center, Nijmegen","UKGTN","Expert","Expert Review Green"],"phenotypes":["Encephalopathy, neonatal severe","Angelman syndrome","Mental retardation, X-linked syndromic, Lubs type","Mental retardation, X-linked, syndromic 13","Rett syndrome"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:6990","gene_name":"methyl-CpG binding protein 2","omim_gene":["300005"],"alias_name":null,"gene_symbol":"MECP2","hgnc_symbol":"MECP2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:153287024-153363212","ensembl_id":"ENSG00000169057"}},"GRch38":{"90":{"location":"X:154021573-154137103","ensembl_id":"ENSG00000169057"}}},"hgnc_date_symbol_changed":"1996-09-03"},"entity_type":"gene","entity_name":"MECP2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory"],"phenotypes":["Rett syndrome, 312750Mental retardation, X-linked, syndromic 13, 300055Rett syndrome, preserved speech variant, 312750Encephalopathy, neonatal severe, 300673{Autism susceptibility, X-linked 3}, 300496Angelman syndrome, 105830Mental retardation, X-linked syndromic, Lubs type, 300260","RETT SYNDROME (RTT)["],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","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"}]}}]}