{"count":7,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3239","gene_name":"early growth response 2","omim_gene":["129010"],"alias_name":["Krox-20 homolog, Drosophila"],"gene_symbol":"EGR2","hgnc_symbol":"EGR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:64571756-64679660","ensembl_id":"ENSG00000122877"}},"GRch38":{"90":{"location":"10:62811996-62919900","ensembl_id":"ENSG00000122877"}}},"hgnc_date_symbol_changed":"1988-08-31"},"entity_type":"gene","entity_name":"EGR2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red"],"phenotypes":["Neuropathy, congenital hypomyelinating, 1, 605253","Charcot-Marie-Tooth disease,type 1D,607678","Dejerine-Sottas disease,145900"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":476,"hash_id":null,"name":"White matter disorders and cerebral calcification - narrow panel","disease_group":"","disease_sub_group":"","status":"public","version":"1.9","version_created":"2019-08-08T11:56:25.970239Z","relevant_disorders":[],"stats":{"number_of_genes":191,"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:3239","gene_name":"early growth response 2","omim_gene":["129010"],"alias_name":["Krox-20 homolog, Drosophila"],"gene_symbol":"EGR2","hgnc_symbol":"EGR2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:64571756-64679660","ensembl_id":"ENSG00000122877"}},"GRch38":{"90":{"location":"10:62811996-62919900","ensembl_id":"ENSG00000122877"}}},"hgnc_date_symbol_changed":"1988-08-31"},"entity_type":"gene","entity_name":"EGR2","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Radboud University Medical Center, Nijmegen"],"phenotypes":["Charcot-Marie-Tooth disease,type 1D,607678","Dejerine-Sottas disease,145900","Neuropathy, congenital hypomyelinating, 1, 605253"],"mode_of_inheritance":"","tags":[],"panel":{"id":42,"hash_id":"568f920822c1fc1c79ca177a","name":"Inherited white matter disorders","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"White matter disorders","status":"public","version":"1.71","version_created":"2019-08-08T12:01:29.978699Z","relevant_disorders":["Leukodystrophy - adult onset"],"stats":{"number_of_genes":166,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3239","gene_name":"early growth response 2","omim_gene":["129010"],"alias_name":["Krox-20 homolog, Drosophila"],"gene_symbol":"EGR2","hgnc_symbol":"EGR2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:64571756-64679660","ensembl_id":"ENSG00000122877"}},"GRch38":{"90":{"location":"10:62811996-62919900","ensembl_id":"ENSG00000122877"}}},"hgnc_date_symbol_changed":"1988-08-31"},"entity_type":"gene","entity_name":"EGR2","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Expert list"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":258,"hash_id":"55b75d5b22c1fc05fd2345c9","name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neuromuscular disorders","status":"public","version":"2.45","version_created":"2019-10-07T10:19:07.721001Z","relevant_disorders":["Arthrogrythsis"],"stats":{"number_of_genes":246,"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","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:3239","gene_name":"early growth response 2","omim_gene":["129010"],"alias_name":["Krox-20 homolog, Drosophila"],"gene_symbol":"EGR2","hgnc_symbol":"EGR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:64571756-64679660","ensembl_id":"ENSG00000122877"}},"GRch38":{"90":{"location":"10:62811996-62919900","ensembl_id":"ENSG00000122877"}}},"hgnc_date_symbol_changed":"1988-08-31"},"entity_type":"gene","entity_name":"EGR2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","PAGE DD-Gene2Phenotype"],"phenotypes":["NEUROPATHY, CONGENITAL HYPOMYELINATING, 1"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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:3239","gene_name":"early growth response 2","omim_gene":["129010"],"alias_name":["Krox-20 homolog, Drosophila"],"gene_symbol":"EGR2","hgnc_symbol":"EGR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:64571756-64679660","ensembl_id":"ENSG00000122877"}},"GRch38":{"90":{"location":"10:62811996-62919900","ensembl_id":"ENSG00000122877"}}},"hgnc_date_symbol_changed":"1988-08-31"},"entity_type":"gene","entity_name":"EGR2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["NEUROPATHY, CONGENITAL HYPOMYELINATING, 1 605253"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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:3239","gene_name":"early growth response 2","omim_gene":["129010"],"alias_name":["Krox-20 homolog, Drosophila"],"gene_symbol":"EGR2","hgnc_symbol":"EGR2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:64571756-64679660","ensembl_id":"ENSG00000122877"}},"GRch38":{"90":{"location":"10:62811996-62919900","ensembl_id":"ENSG00000122877"}}},"hgnc_date_symbol_changed":"1988-08-31"},"entity_type":"gene","entity_name":"EGR2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["9537424"],"evidence":["South West GLH","NHS GMS","London North GLH","Expert Review Green","Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen","Expert list","UKGTN","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Charcot Marie Tooth disease, type 1D, 607678","Charcot-Marie-Tooth, Type 1"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":85,"hash_id":"55ad205422c1fc7041340234","name":"Hereditary neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor and Sensory Disorders of the PNS","status":"public","version":"1.333","version_created":"2019-07-09T13:10:50.031506Z","relevant_disorders":["Charcot-Marie-Tooth disease"],"stats":{"number_of_genes":276,"number_of_strs":11,"number_of_regions":2},"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."}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3239","gene_name":"early growth response 2","omim_gene":["129010"],"alias_name":["Krox-20 homolog, Drosophila"],"gene_symbol":"EGR2","hgnc_symbol":"EGR2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:64571756-64679660","ensembl_id":"ENSG00000122877"}},"GRch38":{"90":{"location":"10:62811996-62919900","ensembl_id":"ENSG00000122877"}}},"hgnc_date_symbol_changed":"1988-08-31"},"entity_type":"gene","entity_name":"EGR2","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Gene2Phenotype confirmed gene with ID HPO"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status 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"}]}}]}