{"count":12,"next":null,"previous":null,"results":[{"gene_data":{"alias":["IDN3","DKFZp434L1319","FLJ11203","FLJ12597","FLJ13354","FLJ13648","Scc2"],"biotype":"protein_coding","hgnc_id":"HGNC:28862","gene_name":"NIPBL, cohesin loading factor","omim_gene":["608667"],"alias_name":["sister chromatid cohesion 2 homolog (yeast)"],"gene_symbol":"NIPBL","hgnc_symbol":"NIPBL","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:36876861-37066515","ensembl_id":"ENSG00000164190"}},"GRch38":{"90":{"location":"5:36876759-37066413","ensembl_id":"ENSG00000164190"}}},"hgnc_date_symbol_changed":"2004-07-21"},"entity_type":"gene","entity_name":"NIPBL","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert list","Other"],"phenotypes":["Cornelia de Lange syndrome 1, 122470","CDLS1","Dislocation of the radial head","upper limb anomalies"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["IDN3","DKFZp434L1319","FLJ11203","FLJ12597","FLJ13354","FLJ13648","Scc2"],"biotype":"protein_coding","hgnc_id":"HGNC:28862","gene_name":"NIPBL, cohesin loading factor","omim_gene":["608667"],"alias_name":["sister chromatid cohesion 2 homolog (yeast)"],"gene_symbol":"NIPBL","hgnc_symbol":"NIPBL","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:36876861-37066515","ensembl_id":"ENSG00000164190"}},"GRch38":{"90":{"location":"5:36876759-37066413","ensembl_id":"ENSG00000164190"}}},"hgnc_date_symbol_changed":"2004-07-21"},"entity_type":"gene","entity_name":"NIPBL","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Emory Genetics Laboratory"],"phenotypes":["Cornelia De Lange"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":131,"hash_id":"553f9744bb5a1616e5ed45e8","name":"IUGR and IGF abnormalities","disease_group":"Endocrine disorders","disease_sub_group":"Growth hormone disorders","status":"public","version":"1.29","version_created":"2019-08-05T14:01:03.716110Z","relevant_disorders":[],"stats":{"number_of_genes":110,"number_of_strs":0,"number_of_regions":5},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["IDN3","DKFZp434L1319","FLJ11203","FLJ12597","FLJ13354","FLJ13648","Scc2"],"biotype":"protein_coding","hgnc_id":"HGNC:28862","gene_name":"NIPBL, cohesin loading factor","omim_gene":["608667"],"alias_name":["sister chromatid cohesion 2 homolog (yeast)"],"gene_symbol":"NIPBL","hgnc_symbol":"NIPBL","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:36876861-37066515","ensembl_id":"ENSG00000164190"}},"GRch38":{"90":{"location":"5:36876759-37066413","ensembl_id":"ENSG00000164190"}}},"hgnc_date_symbol_changed":"2004-07-21"},"entity_type":"gene","entity_name":"NIPBL","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":["IDN3","DKFZp434L1319","FLJ11203","FLJ12597","FLJ13354","FLJ13648","Scc2"],"biotype":"protein_coding","hgnc_id":"HGNC:28862","gene_name":"NIPBL, cohesin loading factor","omim_gene":["608667"],"alias_name":["sister chromatid cohesion 2 homolog (yeast)"],"gene_symbol":"NIPBL","hgnc_symbol":"NIPBL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:36876861-37066515","ensembl_id":"ENSG00000164190"}},"GRch38":{"90":{"location":"5:36876759-37066413","ensembl_id":"ENSG00000164190"}}},"hgnc_date_symbol_changed":"2004-07-21"},"entity_type":"gene","entity_name":"NIPBL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Emory Genetics Laboratory","Expert list","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen","UKGTN","Expert Review Green","London South East RGC GSTT","Viapath"],"phenotypes":["CDLS1","upper limb anomalies","Cornelia de Lange syndrome 1 122470","Dislocation of the radial head","Cornelia de Lange syndrome 1, 122470"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["IDN3","DKFZp434L1319","FLJ11203","FLJ12597","FLJ13354","FLJ13648","Scc2"],"biotype":"protein_coding","hgnc_id":"HGNC:28862","gene_name":"NIPBL, cohesin loading factor","omim_gene":["608667"],"alias_name":["sister chromatid cohesion 2 homolog (yeast)"],"gene_symbol":"NIPBL","hgnc_symbol":"NIPBL","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:36876861-37066515","ensembl_id":"ENSG00000164190"}},"GRch38":{"90":{"location":"5:36876759-37066413","ensembl_id":"ENSG00000164190"}}},"hgnc_date_symbol_changed":"2004-07-21"},"entity_type":"gene","entity_name":"NIPBL","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["15146185","27164022"],"evidence":["NHS GMS","Expert Review Green","Literature"],"phenotypes":["Cornelia de Lange syndrome 1, 122470 (includes microcephaly)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":162,"hash_id":"568f860222c1fc1c79ca1769","name":"Severe microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"DNA repair disorders","status":"public","version":"1.72","version_created":"2019-08-19T16:58:29.143286Z","relevant_disorders":["Primary Microcephaly - Microcephalic Dwarfism Spectrum","Severe microcephaly"],"stats":{"number_of_genes":122,"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."}]}},{"gene_data":{"alias":["IDN3","DKFZp434L1319","FLJ11203","FLJ12597","FLJ13354","FLJ13648","Scc2"],"biotype":"protein_coding","hgnc_id":"HGNC:28862","gene_name":"NIPBL, cohesin loading factor","omim_gene":["608667"],"alias_name":["sister chromatid cohesion 2 homolog (yeast)"],"gene_symbol":"NIPBL","hgnc_symbol":"NIPBL","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:36876861-37066515","ensembl_id":"ENSG00000164190"}},"GRch38":{"90":{"location":"5:36876759-37066413","ensembl_id":"ENSG00000164190"}}},"hgnc_date_symbol_changed":"2004-07-21"},"entity_type":"gene","entity_name":"NIPBL","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["29379197","29440723"],"evidence":["NHS GMS","Expert Review Green","UKGTN","Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services","Expert list",""],"phenotypes":["Cornelia de Lange syndrome 1 122470"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["IDN3","DKFZp434L1319","FLJ11203","FLJ12597","FLJ13354","FLJ13648","Scc2"],"biotype":"protein_coding","hgnc_id":"HGNC:28862","gene_name":"NIPBL, cohesin loading factor","omim_gene":["608667"],"alias_name":["sister chromatid cohesion 2 homolog (yeast)"],"gene_symbol":"NIPBL","hgnc_symbol":"NIPBL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:36876861-37066515","ensembl_id":"ENSG00000164190"}},"GRch38":{"90":{"location":"5:36876759-37066413","ensembl_id":"ENSG00000164190"}}},"hgnc_date_symbol_changed":"2004-07-21"},"entity_type":"gene","entity_name":"NIPBL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["PAGE DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["CORNELIA DE LANGE SYNDROME TYPE 1"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["IDN3","DKFZp434L1319","FLJ11203","FLJ12597","FLJ13354","FLJ13648","Scc2"],"biotype":"protein_coding","hgnc_id":"HGNC:28862","gene_name":"NIPBL, cohesin loading factor","omim_gene":["608667"],"alias_name":["sister chromatid cohesion 2 homolog (yeast)"],"gene_symbol":"NIPBL","hgnc_symbol":"NIPBL","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:36876861-37066515","ensembl_id":"ENSG00000164190"}},"GRch38":{"90":{"location":"5:36876759-37066413","ensembl_id":"ENSG00000164190"}}},"hgnc_date_symbol_changed":"2004-07-21"},"entity_type":"gene","entity_name":"NIPBL","confidence_level":"0","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Removed","Emory Genetics Laboratory"],"phenotypes":["Proportionate Short Stature/Small for Gestational Age"],"mode_of_inheritance":"","tags":[],"panel":{"id":196,"hash_id":"55896ed2bb5a1671a7fef4f9","name":"Osteogenesis imperfecta","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","status":"public","version":"2.0","version_created":"2019-09-04T11:35:54.595856Z","relevant_disorders":["Osteogenesis Imperfecta","R102"],"stats":{"number_of_genes":184,"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":"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":["IDN3","DKFZp434L1319","FLJ11203","FLJ12597","FLJ13354","FLJ13648","Scc2"],"biotype":"protein_coding","hgnc_id":"HGNC:28862","gene_name":"NIPBL, cohesin loading factor","omim_gene":["608667"],"alias_name":["sister chromatid cohesion 2 homolog (yeast)"],"gene_symbol":"NIPBL","hgnc_symbol":"NIPBL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:36876861-37066515","ensembl_id":"ENSG00000164190"}},"GRch38":{"90":{"location":"5:36876759-37066413","ensembl_id":"ENSG00000164190"}}},"hgnc_date_symbol_changed":"2004-07-21"},"entity_type":"gene","entity_name":"NIPBL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15146185","16799922","15146186","15318302","11391654"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["CORNELIA DE LANGE SYNDROME TYPE 1 122470"],"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":["IDN3","DKFZp434L1319","FLJ11203","FLJ12597","FLJ13354","FLJ13648","Scc2"],"biotype":"protein_coding","hgnc_id":"HGNC:28862","gene_name":"NIPBL, cohesin loading factor","omim_gene":["608667"],"alias_name":["sister chromatid cohesion 2 homolog (yeast)"],"gene_symbol":"NIPBL","hgnc_symbol":"NIPBL","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:36876861-37066515","ensembl_id":"ENSG00000164190"}},"GRch38":{"90":{"location":"5:36876759-37066413","ensembl_id":"ENSG00000164190"}}},"hgnc_date_symbol_changed":"2004-07-21"},"entity_type":"gene","entity_name":"NIPBL","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["CORNELIA DE LANGE SYNDROME 1","CDLS1"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["IDN3","DKFZp434L1319","FLJ11203","FLJ12597","FLJ13354","FLJ13648","Scc2"],"biotype":"protein_coding","hgnc_id":"HGNC:28862","gene_name":"NIPBL, cohesin loading factor","omim_gene":["608667"],"alias_name":["sister chromatid cohesion 2 homolog (yeast)"],"gene_symbol":"NIPBL","hgnc_symbol":"NIPBL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:36876861-37066515","ensembl_id":"ENSG00000164190"}},"GRch38":{"90":{"location":"5:36876759-37066413","ensembl_id":"ENSG00000164190"}}},"hgnc_date_symbol_changed":"2004-07-21"},"entity_type":"gene","entity_name":"NIPBL","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red"],"phenotypes":["Cornelia De Lange"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":473,"hash_id":null,"name":"Growth failure in early childhood","disease_group":"","disease_sub_group":"","status":"public","version":"1.3","version_created":"2019-08-14T09:11:49.488162Z","relevant_disorders":["R147"],"stats":{"number_of_genes":126,"number_of_strs":0,"number_of_regions":5},"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."},{"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":["IDN3","DKFZp434L1319","FLJ11203","FLJ12597","FLJ13354","FLJ13648","Scc2"],"biotype":"protein_coding","hgnc_id":"HGNC:28862","gene_name":"NIPBL, cohesin loading factor","omim_gene":["608667"],"alias_name":["sister chromatid cohesion 2 homolog (yeast)"],"gene_symbol":"NIPBL","hgnc_symbol":"NIPBL","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:36876861-37066515","ensembl_id":"ENSG00000164190"}},"GRch38":{"90":{"location":"5:36876759-37066413","ensembl_id":"ENSG00000164190"}}},"hgnc_date_symbol_changed":"2004-07-21"},"entity_type":"gene","entity_name":"NIPBL","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green","Radboud University Medical Center, Nijmegen"],"phenotypes":["Cornelia de Lange syndrome 1, 122470","CORNELIA DE LANGE SYNDROME TYPE 1 (CDLS1)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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"}]}}]}
