{"count":11,"next":null,"previous":null,"results":[{"gene_data":{"alias":["EFO2"],"biotype":"protein_coding","hgnc_id":"HGNC:27230","gene_name":"establishment of sister chromatid cohesion N-acetyltransferase 2","omim_gene":["609353"],"alias_name":null,"gene_symbol":"ESCO2","hgnc_symbol":"ESCO2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:27629466-27670157","ensembl_id":"ENSG00000171320"}},"GRch38":{"90":{"location":"8:27771949-27812640","ensembl_id":"ENSG00000171320"}}},"hgnc_date_symbol_changed":"2005-01-04"},"entity_type":"gene","entity_name":"ESCO2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert list","Other"],"phenotypes":["Roberts syndrome, 268300","radial aplasia","absence of radii, SC phocomelia syndrome, 269000"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":247,"hash_id":"5763f4588f620350a199604e","name":"Radial dysplasia","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","status":"public","version":"1.6","version_created":"2017-11-05T02:37:20.295815Z","relevant_disorders":[],"stats":{"number_of_genes":59,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["EFO2"],"biotype":"protein_coding","hgnc_id":"HGNC:27230","gene_name":"establishment of sister chromatid cohesion N-acetyltransferase 2","omim_gene":["609353"],"alias_name":null,"gene_symbol":"ESCO2","hgnc_symbol":"ESCO2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:27629466-27670157","ensembl_id":"ENSG00000171320"}},"GRch38":{"90":{"location":"8:27771949-27812640","ensembl_id":"ENSG00000171320"}}},"hgnc_date_symbol_changed":"2005-01-04"},"entity_type":"gene","entity_name":"ESCO2","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Emory Genetics Laboratory"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":101,"hash_id":"553f9598bb5a1616e5ed45ae","name":"VACTERL-like phenotypes","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Limb disorders","status":"public","version":"1.24","version_created":"2019-06-20T15:15:18.221805Z","relevant_disorders":[],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["EFO2"],"biotype":"protein_coding","hgnc_id":"HGNC:27230","gene_name":"establishment of sister chromatid cohesion N-acetyltransferase 2","omim_gene":["609353"],"alias_name":null,"gene_symbol":"ESCO2","hgnc_symbol":"ESCO2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:27629466-27670157","ensembl_id":"ENSG00000171320"}},"GRch38":{"90":{"location":"8:27771949-27812640","ensembl_id":"ENSG00000171320"}}},"hgnc_date_symbol_changed":"2005-01-04"},"entity_type":"gene","entity_name":"ESCO2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Other"],"phenotypes":["absence of radii, SC phocomelia syndrome, 269000","Roberts syndrome, 268300","radial aplasia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":384,"hash_id":null,"name":"Limb disorders","disease_group":"","disease_sub_group":"","status":"public","version":"1.61","version_created":"2019-10-03T10:01:34.398179Z","relevant_disorders":[],"stats":{"number_of_genes":234,"number_of_strs":0,"number_of_regions":1},"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"}]}},{"gene_data":{"alias":["EFO2"],"biotype":"protein_coding","hgnc_id":"HGNC:27230","gene_name":"establishment of sister chromatid cohesion N-acetyltransferase 2","omim_gene":["609353"],"alias_name":null,"gene_symbol":"ESCO2","hgnc_symbol":"ESCO2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:27629466-27670157","ensembl_id":"ENSG00000171320"}},"GRch38":{"90":{"location":"8:27771949-27812640","ensembl_id":"ENSG00000171320"}}},"hgnc_date_symbol_changed":"2005-01-04"},"entity_type":"gene","entity_name":"ESCO2","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["Vega et al (2010) J. Med. Genet. 47: 30-37."],"evidence":["Expert Review Red","UKGTN"],"phenotypes":["Vega et al (2010) J. Med. Genet. 47: 30-37","Roberts syndrome 238300"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":230,"hash_id":"553f979fbb5a1616e5ed45f8","name":"Cataracts","disease_group":"Ophthalmological disorders","disease_sub_group":"Anterior segment abnormalities","status":"public","version":"2.0","version_created":"2019-10-02T14:52:22.701027Z","relevant_disorders":["R31"],"stats":{"number_of_genes":172,"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 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":"GMS signed-off","slug":"gms-signed-off","description":"This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."}]}},{"gene_data":{"alias":["EFO2"],"biotype":"protein_coding","hgnc_id":"HGNC:27230","gene_name":"establishment of sister chromatid cohesion N-acetyltransferase 2","omim_gene":["609353"],"alias_name":null,"gene_symbol":"ESCO2","hgnc_symbol":"ESCO2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:27629466-27670157","ensembl_id":"ENSG00000171320"}},"GRch38":{"90":{"location":"8:27771949-27812640","ensembl_id":"ENSG00000171320"}}},"hgnc_date_symbol_changed":"2005-01-04"},"entity_type":"gene","entity_name":"ESCO2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green",""],"phenotypes":["SC phocomelia syndrome 269000","Roberts syndrome 268300"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":309,"hash_id":"5693952f22c1fc251660fb1e","name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","status":"public","version":"1.203","version_created":"2019-10-03T09:38:50.417968Z","relevant_disorders":["Unexplained skeletal dysplasia","Skeletal dysplasia"],"stats":{"number_of_genes":546,"number_of_strs":1,"number_of_regions":6},"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"}]}},{"gene_data":{"alias":["EFO2"],"biotype":"protein_coding","hgnc_id":"HGNC:27230","gene_name":"establishment of sister chromatid cohesion N-acetyltransferase 2","omim_gene":["609353"],"alias_name":null,"gene_symbol":"ESCO2","hgnc_symbol":"ESCO2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:27629466-27670157","ensembl_id":"ENSG00000171320"}},"GRch38":{"90":{"location":"8:27771949-27812640","ensembl_id":"ENSG00000171320"}}},"hgnc_date_symbol_changed":"2005-01-04"},"entity_type":"gene","entity_name":"ESCO2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["PAGE DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["SC PHOCOMELIA SYNDROME","ROBERTS SYNDROME"],"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":["EFO2"],"biotype":"protein_coding","hgnc_id":"HGNC:27230","gene_name":"establishment of sister chromatid cohesion N-acetyltransferase 2","omim_gene":["609353"],"alias_name":null,"gene_symbol":"ESCO2","hgnc_symbol":"ESCO2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:27629466-27670157","ensembl_id":"ENSG00000171320"}},"GRch38":{"90":{"location":"8:27771949-27812640","ensembl_id":"ENSG00000171320"}}},"hgnc_date_symbol_changed":"2005-01-04"},"entity_type":"gene","entity_name":"ESCO2","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":["31192177"],"evidence":["Expert Review Amber","NHS GMS","Expert list"],"phenotypes":["Roberts syndrome","SC phocomelia syndrome"],"mode_of_inheritance":"","tags":[],"panel":{"id":168,"hash_id":"55b605f722c1fc05fd2345af","name":"Craniosynostosis","disease_group":"Skeletal disorders","disease_sub_group":"Craniosynostosis syndromes","status":"public","version":"2.0","version_created":"2019-09-17T13:00:09.542482Z","relevant_disorders":["Craniosynostosis syndromes","Craniosynostosis syndromes phenotypes","Rare syndromic craniosynostosis or isolated multisuture synostosis","R100"],"stats":{"number_of_genes":114,"number_of_strs":0,"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."},{"name":"GMS signed-off","slug":"gms-signed-off","description":"This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."}]}},{"gene_data":{"alias":["EFO2"],"biotype":"protein_coding","hgnc_id":"HGNC:27230","gene_name":"establishment of sister chromatid cohesion N-acetyltransferase 2","omim_gene":["609353"],"alias_name":null,"gene_symbol":"ESCO2","hgnc_symbol":"ESCO2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:27629466-27670157","ensembl_id":"ENSG00000171320"}},"GRch38":{"90":{"location":"8:27771949-27812640","ensembl_id":"ENSG00000171320"}}},"hgnc_date_symbol_changed":"2005-01-04"},"entity_type":"gene","entity_name":"ESCO2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15821733","495649"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["SC PHOCOMELIA SYNDROME 269000","ROBERTS SYNDROME 268300"],"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":["EFO2"],"biotype":"protein_coding","hgnc_id":"HGNC:27230","gene_name":"establishment of sister chromatid cohesion N-acetyltransferase 2","omim_gene":["609353"],"alias_name":null,"gene_symbol":"ESCO2","hgnc_symbol":"ESCO2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:27629466-27670157","ensembl_id":"ENSG00000171320"}},"GRch38":{"90":{"location":"8:27771949-27812640","ensembl_id":"ENSG00000171320"}}},"hgnc_date_symbol_changed":"2005-01-04"},"entity_type":"gene","entity_name":"ESCO2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["ROBERTS SYNDROME","RBS, SC PHOCOMELIA SYNDROME"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":81,"hash_id":"57acb8268f620364dc61afd3","name":"Clefting","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","status":"public","version":"1.59","version_created":"2019-09-03T09:03:20.170928Z","relevant_disorders":["Familial non-syndromic cleft lip and or familial cleft palate","Familial non-syndromic clefting","Syndromic cleft lip and or cleft palate","Syndromic clefting"],"stats":{"number_of_genes":258,"number_of_strs":0,"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."},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["EFO2"],"biotype":"protein_coding","hgnc_id":"HGNC:27230","gene_name":"establishment of sister chromatid cohesion N-acetyltransferase 2","omim_gene":["609353"],"alias_name":null,"gene_symbol":"ESCO2","hgnc_symbol":"ESCO2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"8:27629466-27670157","ensembl_id":"ENSG00000171320"}},"GRch38":{"90":{"location":"8:27771949-27812640","ensembl_id":"ENSG00000171320"}}},"hgnc_date_symbol_changed":"2005-01-04"},"entity_type":"gene","entity_name":"ESCO2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen"],"phenotypes":["Roberts syndrome, 268300SC phocomelia syndrome, 269000","SC PHOCOMELIA SYNDROME (SCPS)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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"}]}},{"gene_data":{"alias":["EFO2"],"biotype":"protein_coding","hgnc_id":"HGNC:27230","gene_name":"establishment of sister chromatid cohesion N-acetyltransferase 2","omim_gene":["609353"],"alias_name":null,"gene_symbol":"ESCO2","hgnc_symbol":"ESCO2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:27629466-27670157","ensembl_id":"ENSG00000171320"}},"GRch38":{"90":{"location":"8:27771949-27812640","ensembl_id":"ENSG00000171320"}}},"hgnc_date_symbol_changed":"2005-01-04"},"entity_type":"gene","entity_name":"ESCO2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16380922","19574259"],"evidence":["NHS GMS","Expert Review Green","London North GLH"],"phenotypes":["SC Phocomelia Syndrome, 269000"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":509,"hash_id":null,"name":"Structural eye disease","disease_group":"","disease_sub_group":"","status":"public","version":"0.93","version_created":"2019-10-09T13:18:12.923145Z","relevant_disorders":["R36"],"stats":{"number_of_genes":456,"number_of_strs":0,"number_of_regions":2},"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)"}]}}]}