{"count":13,"next":null,"previous":null,"results":[{"gene_data":{"alias":["FREAC8"],"biotype":"protein_coding","hgnc_id":"HGNC:3808","gene_name":"forkhead box E3","omim_gene":["601094"],"alias_name":null,"gene_symbol":"FOXE3","hgnc_symbol":"FOXE3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:47881744-47883723","ensembl_id":"ENSG00000186790"}},"GRch38":{"90":{"location":"1:47416072-47418052","ensembl_id":"ENSG00000186790"}}},"hgnc_date_symbol_changed":"1995-06-05"},"entity_type":"gene","entity_name":"FOXE3","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["ClinGen","Expert Review Amber"],"phenotypes":["Familial thoracic aortic aneurysm and aortic dissection"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":210,"hash_id":"594be3878f62037ee3e7e72f","name":"ClinGen_Familial thoracic aortic aneurysm and aortic dissection","disease_group":"","disease_sub_group":"","status":"public","version":"0.10","version_created":"2017-11-05T02:37:20.232365Z","relevant_disorders":[],"stats":{"number_of_genes":53,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"ClinGen Curated genes","slug":"clingen-curated-genes","description":"ClinGen Curated genes"}]}},{"gene_data":{"alias":["FREAC8"],"biotype":"protein_coding","hgnc_id":"HGNC:3808","gene_name":"forkhead box E3","omim_gene":["601094"],"alias_name":null,"gene_symbol":"FOXE3","hgnc_symbol":"FOXE3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:47881744-47883723","ensembl_id":"ENSG00000186790"}},"GRch38":{"90":{"location":"1:47416072-47418052","ensembl_id":"ENSG00000186790"}}},"hgnc_date_symbol_changed":"1995-06-05"},"entity_type":"gene","entity_name":"FOXE3","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["11159941","16826526","20361012","21150893","27218149"],"evidence":["Expert Review Green","Emory Genetics Laboratory"],"phenotypes":["Anterior segment dysgenesis 2, multiple subtypes 610256"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":249,"hash_id":"55507b25bb5a161bf644a3b2","name":"Glaucoma (developmental)","disease_group":"Ophthalmological disorders","disease_sub_group":"Anterior segment abnormalities","status":"public","version":"1.5","version_created":"2019-06-20T15:15:07.662717Z","relevant_disorders":[],"stats":{"number_of_genes":224,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["FREAC8"],"biotype":"protein_coding","hgnc_id":"HGNC:3808","gene_name":"forkhead box E3","omim_gene":["601094"],"alias_name":null,"gene_symbol":"FOXE3","hgnc_symbol":"FOXE3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:47881744-47883723","ensembl_id":"ENSG00000186790"}},"GRch38":{"90":{"location":"1:47416072-47418052","ensembl_id":"ENSG00000186790"}}},"hgnc_date_symbol_changed":"1995-06-05"},"entity_type":"gene","entity_name":"FOXE3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":105,"hash_id":"572c908e8f62036eed0a39c8","name":"Pneumothorax - familial","disease_group":"Respiratory disorders","disease_sub_group":"Structural lung disorders","status":"public","version":"1.18","version_created":"2019-09-27T18:57:12.249816Z","relevant_disorders":["Familial Pneumothorax","Familial Primary Spontaneous Pneumothorax","R190"],"stats":{"number_of_genes":35,"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)"}]}},{"gene_data":{"alias":["FREAC8"],"biotype":"protein_coding","hgnc_id":"HGNC:3808","gene_name":"forkhead box E3","omim_gene":["601094"],"alias_name":null,"gene_symbol":"FOXE3","hgnc_symbol":"FOXE3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:47881744-47883723","ensembl_id":"ENSG00000186790"}},"GRch38":{"90":{"location":"1:47416072-47418052","ensembl_id":"ENSG00000186790"}}},"hgnc_date_symbol_changed":"1995-06-05"},"entity_type":"gene","entity_name":"FOXE3","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["Iseri et al (2009) Hum Mutat 30:1378-1386","Semina et al (2001) Hum Mol Genet 10:231-236","Br mond-Gignac et al (2010) Mol Vis 16:1705-1711."],"evidence":["Expert Review Green","UKGTN"],"phenotypes":["Autosomal dominant cataracts","Peter's anomaly, microphthalmia."],"mode_of_inheritance":"BOTH monoallelic and 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":["FREAC8"],"biotype":"protein_coding","hgnc_id":"HGNC:3808","gene_name":"forkhead box E3","omim_gene":["601094"],"alias_name":null,"gene_symbol":"FOXE3","hgnc_symbol":"FOXE3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:47881744-47883723","ensembl_id":"ENSG00000186790"}},"GRch38":{"90":{"location":"1:47416072-47418052","ensembl_id":"ENSG00000186790"}}},"hgnc_date_symbol_changed":"1995-06-05"},"entity_type":"gene","entity_name":"FOXE3","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["24859618, 19708017"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory"],"phenotypes":["Anterior segment mesenchymal dysgenesis  107250"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":294,"hash_id":"5550a166bb5a161bf644a3b6","name":"Ocular coloboma","disease_group":"Ophthalmological disorders","disease_sub_group":"Ocular malformations","status":"public","version":"1.34","version_created":"2019-06-20T15:15:14.600523Z","relevant_disorders":[],"stats":{"number_of_genes":63,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["FREAC8"],"biotype":"protein_coding","hgnc_id":"HGNC:3808","gene_name":"forkhead box E3","omim_gene":["601094"],"alias_name":null,"gene_symbol":"FOXE3","hgnc_symbol":"FOXE3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:47881744-47883723","ensembl_id":"ENSG00000186790"}},"GRch38":{"90":{"location":"1:47416072-47418052","ensembl_id":"ENSG00000186790"}}},"hgnc_date_symbol_changed":"1995-06-05"},"entity_type":"gene","entity_name":"FOXE3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["South West GLH","London South GLH","Expert Review Amber","South West GLH","London South GLH"],"phenotypes":["{Aortic aneurysm, familial thoracic 11, susceptibility to}"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":700,"hash_id":null,"name":"Thoracic aortic aneurysm and dissection","disease_group":"","disease_sub_group":"","status":"public","version":"0.32","version_created":"2019-10-02T11:56:22.695639Z","relevant_disorders":["R125"],"stats":{"number_of_genes":62,"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":["FREAC8"],"biotype":"protein_coding","hgnc_id":"HGNC:3808","gene_name":"forkhead box E3","omim_gene":["601094"],"alias_name":null,"gene_symbol":"FOXE3","hgnc_symbol":"FOXE3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:47881744-47883723","ensembl_id":"ENSG00000186790"}},"GRch38":{"90":{"location":"1:47416072-47418052","ensembl_id":"ENSG00000186790"}}},"hgnc_date_symbol_changed":"1995-06-05"},"entity_type":"gene","entity_name":"FOXE3","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["26854927"],"evidence":["South West GLH","London South GLH","Literature"],"phenotypes":["{Aortic aneurysm, familial thoracic 11, susceptibility to}"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":1,"hash_id":"5596735822c1fc4f7d26e96d","name":"Thoracic aortic aneurysm or dissection","disease_group":"Cardiovascular disorders","disease_sub_group":"Connective tissue disorders and aortopathies","status":"public","version":"1.103","version_created":"2019-10-02T10:51:03.815181Z","relevant_disorders":["Familial retinal arteriolar tortuosity","FTAAD","Familial Thoracic Aortic Aneurysm Disease"],"stats":{"number_of_genes":63,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["FREAC8"],"biotype":"protein_coding","hgnc_id":"HGNC:3808","gene_name":"forkhead box E3","omim_gene":["601094"],"alias_name":null,"gene_symbol":"FOXE3","hgnc_symbol":"FOXE3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:47881744-47883723","ensembl_id":"ENSG00000186790"}},"GRch38":{"90":{"location":"1:47416072-47418052","ensembl_id":"ENSG00000186790"}}},"hgnc_date_symbol_changed":"1995-06-05"},"entity_type":"gene","entity_name":"FOXE3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["PAGE DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS","CONGENITAL PRIMARY APHAKIA"],"mode_of_inheritance":"BOTH monoallelic and 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":["FREAC8"],"biotype":"protein_coding","hgnc_id":"HGNC:3808","gene_name":"forkhead box E3","omim_gene":["601094"],"alias_name":null,"gene_symbol":"FOXE3","hgnc_symbol":"FOXE3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:47881744-47883723","ensembl_id":"ENSG00000186790"}},"GRch38":{"90":{"location":"1:47416072-47418052","ensembl_id":"ENSG00000186790"}}},"hgnc_date_symbol_changed":"1995-06-05"},"entity_type":"gene","entity_name":"FOXE3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["6801987","11159941","3550563"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["CONGENITAL PRIMARY APHAKIA 610256","ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS 107250"],"mode_of_inheritance":"BOTH monoallelic and 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":["FREAC8"],"biotype":"protein_coding","hgnc_id":"HGNC:3808","gene_name":"forkhead box E3","omim_gene":["601094"],"alias_name":null,"gene_symbol":"FOXE3","hgnc_symbol":"FOXE3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:47881744-47883723","ensembl_id":"ENSG00000186790"}},"GRch38":{"90":{"location":"1:47416072-47418052","ensembl_id":"ENSG00000186790"}}},"hgnc_date_symbol_changed":"1995-06-05"},"entity_type":"gene","entity_name":"FOXE3","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Emory Genetics Laboratory"],"phenotypes":[],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":34,"hash_id":"553f97abbb5a1616e5ed45f9","name":"Anophthalmia or microphthalmia","disease_group":"Ophthalmological disorders","disease_sub_group":"Ocular malformations","status":"public","version":"1.21","version_created":"2019-06-20T15:14:55.669056Z","relevant_disorders":["Anophthalmia or microphthamia","Anophthalmia/microphthamia","Anophthalmia/microphthalmia"],"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"}]}},{"gene_data":{"alias":["FREAC8"],"biotype":"protein_coding","hgnc_id":"HGNC:3808","gene_name":"forkhead box E3","omim_gene":["601094"],"alias_name":null,"gene_symbol":"FOXE3","hgnc_symbol":"FOXE3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:47881744-47883723","ensembl_id":"ENSG00000186790"}},"GRch38":{"90":{"location":"1:47416072-47418052","ensembl_id":"ENSG00000186790"}}},"hgnc_date_symbol_changed":"1995-06-05"},"entity_type":"gene","entity_name":"FOXE3","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Anterior segment mesenchymal dysgenesis, 107250","Aphakia, congenital primary, 610256"],"mode_of_inheritance":"BOTH monoallelic and 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":["FREAC8"],"biotype":"protein_coding","hgnc_id":"HGNC:3808","gene_name":"forkhead box E3","omim_gene":["601094"],"alias_name":null,"gene_symbol":"FOXE3","hgnc_symbol":"FOXE3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:47881744-47883723","ensembl_id":"ENSG00000186790"}},"GRch38":{"90":{"location":"1:47416072-47418052","ensembl_id":"ENSG00000186790"}}},"hgnc_date_symbol_changed":"1995-06-05"},"entity_type":"gene","entity_name":"FOXE3","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Red"],"phenotypes":["Eye Disorders"],"mode_of_inheritance":"","tags":[],"panel":{"id":307,"hash_id":"56e0238b22c1fc09c97a6e46","name":"Retinal disorders","disease_group":"Ophthalmological disorders","disease_sub_group":"Posterior segment abnormalities","status":"public","version":"1.199","version_created":"2019-10-08T09:22:18.436205Z","relevant_disorders":["Posterior segment abnormalities","Cone Dysfunction Syndrome","Developmental macular and foveal dystrophy","Inherited macular dystrophy","Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy","Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy","Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy","Rod Dysfunction Syndrome","Rod-cone dystrophy","Familial exudative vitreoretinopathy","Familial exudative retinopathy","R32","R33","R34","R35"],"stats":{"number_of_genes":320,"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."}]}},{"gene_data":{"alias":["FREAC8"],"biotype":"protein_coding","hgnc_id":"HGNC:3808","gene_name":"forkhead box E3","omim_gene":["601094"],"alias_name":null,"gene_symbol":"FOXE3","hgnc_symbol":"FOXE3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:47881744-47883723","ensembl_id":"ENSG00000186790"}},"GRch38":{"90":{"location":"1:47416072-47418052","ensembl_id":"ENSG00000186790"}}},"hgnc_date_symbol_changed":"1995-06-05"},"entity_type":"gene","entity_name":"FOXE3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":["16826526","24859618, 19708017","20361012","11159941","27218149","21150893"],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["Anterior segment mesenchymal dysgenesis 107250","Anterior segment dysgenesis 2, multiple subtypes 610256"],"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)"}]}}]}