{"count":7,"next":null,"previous":null,"results":[{"gene_data":{"alias":["dJ794I6.2","BTR1","NaBC1","FECD4"],"biotype":"protein_coding","hgnc_id":"HGNC:16438","gene_name":"solute carrier family 4 member 11","omim_gene":["610206"],"alias_name":null,"gene_symbol":"SLC4A11","hgnc_symbol":"SLC4A11","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"20:3208063-3219836","ensembl_id":"ENSG00000088836"}},"GRch38":{"90":{"location":"20:3227417-3239190","ensembl_id":"ENSG00000088836"}}},"hgnc_date_symbol_changed":"2001-11-02"},"entity_type":"gene","entity_name":"SLC4A11","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["16825429","18024964","16767101"],"evidence":["Expert Review Green","GDL Corneal Abnormalities panel","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Corneal Dystrophy, Recessive","Corneal endothelial dystrophy 2, autosomal recessive, 217700","Congenital Hereditary Endothelial Dystrophy"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":"553f979ebb5a1616e5ed45f6","name":"Corneal abnormalities","disease_group":"Ophthalmological disorders","disease_sub_group":"Anterior segment abnormalities","status":"public","version":"1.7","version_created":"2019-04-01T14:16:45.925824Z","relevant_disorders":["Corneal abnormalities","Corneal dystrophy"],"stats":{"number_of_genes":42,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["dJ794I6.2","BTR1","NaBC1","FECD4"],"biotype":"protein_coding","hgnc_id":"HGNC:16438","gene_name":"solute carrier family 4 member 11","omim_gene":["610206"],"alias_name":null,"gene_symbol":"SLC4A11","hgnc_symbol":"SLC4A11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:3208063-3219836","ensembl_id":"ENSG00000088836"}},"GRch38":{"90":{"location":"20:3227417-3239190","ensembl_id":"ENSG00000088836"}}},"hgnc_date_symbol_changed":"2001-11-02"},"entity_type":"gene","entity_name":"SLC4A11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16767101","16825429"],"evidence":["Expert Review Green","Wessex and West Midlands GLH"],"phenotypes":["Corneal dystrophy, Fuchs endothelial, 4 613268","Corneal endothelial dystrophy and perceptive deafness 217400","Corneal endothelial dystrophy, autosomal recessive 217700"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":658,"hash_id":null,"name":"Corneal dystrophies","disease_group":"","disease_sub_group":"","status":"public","version":"1.0","version_created":"2019-08-05T09:36:18.018511Z","relevant_disorders":["R262"],"stats":{"number_of_genes":22,"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":"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":["dJ794I6.2","BTR1","NaBC1","FECD4"],"biotype":"protein_coding","hgnc_id":"HGNC:16438","gene_name":"solute carrier family 4 member 11","omim_gene":["610206"],"alias_name":null,"gene_symbol":"SLC4A11","hgnc_symbol":"SLC4A11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:3208063-3219836","ensembl_id":"ENSG00000088836"}},"GRch38":{"90":{"location":"20:3227417-3239190","ensembl_id":"ENSG00000088836"}}},"hgnc_date_symbol_changed":"2001-11-02"},"entity_type":"gene","entity_name":"SLC4A11","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","PAGE DD-Gene2Phenotype"],"phenotypes":["CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4"],"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":["dJ794I6.2","BTR1","NaBC1","FECD4"],"biotype":"protein_coding","hgnc_id":"HGNC:16438","gene_name":"solute carrier family 4 member 11","omim_gene":["610206"],"alias_name":null,"gene_symbol":"SLC4A11","hgnc_symbol":"SLC4A11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:3208063-3219836","ensembl_id":"ENSG00000088836"}},"GRch38":{"90":{"location":"20:3227417-3239190","ensembl_id":"ENSG00000088836"}}},"hgnc_date_symbol_changed":"2001-11-02"},"entity_type":"gene","entity_name":"SLC4A11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","DD-Gene2Phenotype"],"phenotypes":["CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4 613268"],"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":["dJ794I6.2","BTR1","NaBC1","FECD4"],"biotype":"protein_coding","hgnc_id":"HGNC:16438","gene_name":"solute carrier family 4 member 11","omim_gene":["610206"],"alias_name":null,"gene_symbol":"SLC4A11","hgnc_symbol":"SLC4A11","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"20:3208063-3219836","ensembl_id":"ENSG00000088836"}},"GRch38":{"90":{"location":"20:3227417-3239190","ensembl_id":"ENSG00000088836"}}},"hgnc_date_symbol_changed":"2001-11-02"},"entity_type":"gene","entity_name":"SLC4A11","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["PMID: 11302728","12556388","15525507","16767101","16825429","17220209","18024964","22072594"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","Expert","UKGTN"],"phenotypes":["#217400:Corneal endothelial dystrophy and perceptive deafness","#217700:Corneal endothelial dystrophy 2, autosomal recessive"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":126,"hash_id":"558ac48fbb5a16630dcfeaad","name":"Hearing loss","disease_group":"Hearing and ear disorders","disease_sub_group":"Non-syndromic hearing loss","status":"public","version":"2.2","version_created":"2019-09-03T14:01:56.987667Z","relevant_disorders":["Congenital hearing impairment","Autosomal dominant deafness","Congenital hearing impairment (profound/severe)","R67"],"stats":{"number_of_genes":358,"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."},{"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":["dJ794I6.2","BTR1","NaBC1","FECD4"],"biotype":"protein_coding","hgnc_id":"HGNC:16438","gene_name":"solute carrier family 4 member 11","omim_gene":["610206"],"alias_name":null,"gene_symbol":"SLC4A11","hgnc_symbol":"SLC4A11","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"20:3208063-3219836","ensembl_id":"ENSG00000088836"}},"GRch38":{"90":{"location":"20:3227417-3239190","ensembl_id":"ENSG00000088836"}}},"hgnc_date_symbol_changed":"2001-11-02"},"entity_type":"gene","entity_name":"SLC4A11","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Corneal endothelial dystrophy 2, autosomal recessive, 217700","Corneal endothelial dystrophy and perceptive deafness, 217400","Corneal dystrophy, Fuchs endothelial, 4, 613268"],"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":["dJ794I6.2","BTR1","NaBC1","FECD4"],"biotype":"protein_coding","hgnc_id":"HGNC:16438","gene_name":"solute carrier family 4 member 11","omim_gene":["610206"],"alias_name":null,"gene_symbol":"SLC4A11","hgnc_symbol":"SLC4A11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:3208063-3219836","ensembl_id":"ENSG00000088836"}},"GRch38":{"90":{"location":"20:3227417-3239190","ensembl_id":"ENSG00000088836"}}},"hgnc_date_symbol_changed":"2001-11-02"},"entity_type":"gene","entity_name":"SLC4A11","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS"],"phenotypes":["Corneal endothelial dystrophy and perceptive deafness, 217400","Corneal dystrophy, Fuchs endothelial, 4, 613268","Corneal endothelial dystrophy 2, autosomal recessive, 217700"],"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)"}]}}]}