{"count":11,"next":null,"previous":null,"results":[{"gene_data":{"alias":["FLJ13096"],"biotype":"protein_coding","hgnc_id":"HGNC:25784","gene_name":"DDB1 and CUL4 associated factor 17","omim_gene":["612515"],"alias_name":["Woodhouse-Sakati syndrome"],"gene_symbol":"DCAF17","hgnc_symbol":"DCAF17","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:172290727-172341562","ensembl_id":"ENSG00000115827"}},"GRch38":{"90":{"location":"2:171434217-171485052","ensembl_id":"ENSG00000115827"}}},"hgnc_date_symbol_changed":"2009-07-17"},"entity_type":"gene","entity_name":"DCAF17","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["19026396","20507343"],"evidence":["Expert Review Red","Expert Review"],"phenotypes":[],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":26,"hash_id":"55a9238422c1fc6711b0c6c3","name":"Diabetes with additional phenotypes suggestive of a monogenic aetiology","disease_group":"Endocrine disorders","disease_sub_group":"Disorders of unusual phenotypes","status":"public","version":"1.59","version_created":"2019-06-20T15:15:00.936648Z","relevant_disorders":[],"stats":{"number_of_genes":64,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["FLJ13096"],"biotype":"protein_coding","hgnc_id":"HGNC:25784","gene_name":"DDB1 and CUL4 associated factor 17","omim_gene":["612515"],"alias_name":["Woodhouse-Sakati syndrome"],"gene_symbol":"DCAF17","hgnc_symbol":"DCAF17","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:172290727-172341562","ensembl_id":"ENSG00000115827"}},"GRch38":{"90":{"location":"2:171434217-171485052","ensembl_id":"ENSG00000115827"}}},"hgnc_date_symbol_changed":"2009-07-17"},"entity_type":"gene","entity_name":"DCAF17","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Emory Genetics Laboratory"],"phenotypes":["Dystonia","Woodhouse-Sakati syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":192,"hash_id":"553f95c9bb5a1616e5ed45bf","name":"Early onset dystonia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor Disorders of the CNS","status":"public","version":"1.81","version_created":"2019-09-23T11:22:14.418180Z","relevant_disorders":[],"stats":{"number_of_genes":111,"number_of_strs":4,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["FLJ13096"],"biotype":"protein_coding","hgnc_id":"HGNC:25784","gene_name":"DDB1 and CUL4 associated factor 17","omim_gene":["612515"],"alias_name":["Woodhouse-Sakati syndrome"],"gene_symbol":"DCAF17","hgnc_symbol":"DCAF17","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:172290727-172341562","ensembl_id":"ENSG00000115827"}},"GRch38":{"90":{"location":"2:171434217-171485052","ensembl_id":"ENSG00000115827"}}},"hgnc_date_symbol_changed":"2009-07-17"},"entity_type":"gene","entity_name":"DCAF17","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["19026396","20507343","24464444"],"evidence":["Expert Review Green","NHS GMS","Expert Review"],"phenotypes":["Woodhouse-Sakati syndrome, 241080"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":152,"hash_id":"553f9745bb5a1616e5ed45e9","name":"Familial diabetes","disease_group":"Endocrine disorders","disease_sub_group":"Disorders of unusual phenotypes","status":"public","version":"1.38","version_created":"2019-06-20T15:15:02.453936Z","relevant_disorders":["Familial young-onset non-insulin-dependent diabetes"],"stats":{"number_of_genes":56,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["FLJ13096"],"biotype":"protein_coding","hgnc_id":"HGNC:25784","gene_name":"DDB1 and CUL4 associated factor 17","omim_gene":["612515"],"alias_name":["Woodhouse-Sakati syndrome"],"gene_symbol":"DCAF17","hgnc_symbol":"DCAF17","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:172290727-172341562","ensembl_id":"ENSG00000115827"}},"GRch38":{"90":{"location":"2:171434217-171485052","ensembl_id":"ENSG00000115827"}}},"hgnc_date_symbol_changed":"2009-07-17"},"entity_type":"gene","entity_name":"DCAF17","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["20507343"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Woodhouse-Sakati syndrome\t241080"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":92,"hash_id":"573b204d8f62030defb98057","name":"Hypogonadotropic hypogonadism","disease_group":"Endocrine disorders","disease_sub_group":"Hypothalamic and pituitary disorders","status":"public","version":"1.26","version_created":"2019-06-20T15:11:57.281996Z","relevant_disorders":["Kallmann syndrome","Kallmann syndrom","Idiopathic hypogonadotropic hypogonadism"],"stats":{"number_of_genes":46,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["FLJ13096"],"biotype":"protein_coding","hgnc_id":"HGNC:25784","gene_name":"DDB1 and CUL4 associated factor 17","omim_gene":["612515"],"alias_name":["Woodhouse-Sakati syndrome"],"gene_symbol":"DCAF17","hgnc_symbol":"DCAF17","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:172290727-172341562","ensembl_id":"ENSG00000115827"}},"GRch38":{"90":{"location":"2:171434217-171485052","ensembl_id":"ENSG00000115827"}}},"hgnc_date_symbol_changed":"2009-07-17"},"entity_type":"gene","entity_name":"DCAF17","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","Wessex and West Midlands GLH","NHS GMS","South West GLH"],"phenotypes":["Woodhouse-Sakati syndrome (OMIM 241080)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":650,"hash_id":null,"name":"Hypogonadotropic hypogonadism idiopathic","disease_group":"","disease_sub_group":"","status":"public","version":"1.0","version_created":"2019-07-31T14:03:41.992857Z","relevant_disorders":["R148"],"stats":{"number_of_genes":32,"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."},{"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":["FLJ13096"],"biotype":"protein_coding","hgnc_id":"HGNC:25784","gene_name":"DDB1 and CUL4 associated factor 17","omim_gene":["612515"],"alias_name":["Woodhouse-Sakati syndrome"],"gene_symbol":"DCAF17","hgnc_symbol":"DCAF17","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:172290727-172341562","ensembl_id":"ENSG00000115827"}},"GRch38":{"90":{"location":"2:171434217-171485052","ensembl_id":"ENSG00000115827"}}},"hgnc_date_symbol_changed":"2009-07-17"},"entity_type":"gene","entity_name":"DCAF17","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["Woodhouse-Sakati syndrome","Dystonia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":475,"hash_id":null,"name":"Dystonia - childhood onset","disease_group":"","disease_sub_group":"","status":"public","version":"1.8","version_created":"2019-09-09T13:17:58.240159Z","relevant_disorders":[],"stats":{"number_of_genes":176,"number_of_strs":7,"number_of_regions":1},"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":["FLJ13096"],"biotype":"protein_coding","hgnc_id":"HGNC:25784","gene_name":"DDB1 and CUL4 associated factor 17","omim_gene":["612515"],"alias_name":["Woodhouse-Sakati syndrome"],"gene_symbol":"DCAF17","hgnc_symbol":"DCAF17","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:172290727-172341562","ensembl_id":"ENSG00000115827"}},"GRch38":{"90":{"location":"2:171434217-171485052","ensembl_id":"ENSG00000115827"}}},"hgnc_date_symbol_changed":"2009-07-17"},"entity_type":"gene","entity_name":"DCAF17","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20507343","19026396","24464444"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Woodhouse-Sakati syndrome, 241080","Woodhouse-Sakati syndrome (hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":472,"hash_id":null,"name":"Monogenic diabetes","disease_group":"","disease_sub_group":"","status":"public","version":"2.1","version_created":"2019-07-31T13:20:07.800002Z","relevant_disorders":["R141"],"stats":{"number_of_genes":77,"number_of_strs":0,"number_of_regions":1},"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":["FLJ13096"],"biotype":"protein_coding","hgnc_id":"HGNC:25784","gene_name":"DDB1 and CUL4 associated factor 17","omim_gene":["612515"],"alias_name":["Woodhouse-Sakati syndrome"],"gene_symbol":"DCAF17","hgnc_symbol":"DCAF17","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:172290727-172341562","ensembl_id":"ENSG00000115827"}},"GRch38":{"90":{"location":"2:171434217-171485052","ensembl_id":"ENSG00000115827"}}},"hgnc_date_symbol_changed":"2009-07-17"},"entity_type":"gene","entity_name":"DCAF17","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Wessex and West Midlands GLH","Yorkshire and North East GLH","NHS GMS","London North GLH"],"phenotypes":["Dystonia","Woodhouse-Sakati syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":474,"hash_id":null,"name":"Neurodegenerative disorders - adult onset","disease_group":"","disease_sub_group":"","status":"public","version":"1.106","version_created":"2019-09-20T16:19:10.101841Z","relevant_disorders":["R58"],"stats":{"number_of_genes":395,"number_of_strs":18,"number_of_regions":4},"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":["FLJ13096"],"biotype":"protein_coding","hgnc_id":"HGNC:25784","gene_name":"DDB1 and CUL4 associated factor 17","omim_gene":["612515"],"alias_name":["Woodhouse-Sakati syndrome"],"gene_symbol":"DCAF17","hgnc_symbol":"DCAF17","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:172290727-172341562","ensembl_id":"ENSG00000115827"}},"GRch38":{"90":{"location":"2:171434217-171485052","ensembl_id":"ENSG00000115827"}}},"hgnc_date_symbol_changed":"2009-07-17"},"entity_type":"gene","entity_name":"DCAF17","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["DD-Gene2Phenotype","Expert Review Red"],"phenotypes":["WOODHOUSE-SAKATI SYNDROME 241080"],"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":["FLJ13096"],"biotype":"protein_coding","hgnc_id":"HGNC:25784","gene_name":"DDB1 and CUL4 associated factor 17","omim_gene":["612515"],"alias_name":["Woodhouse-Sakati syndrome"],"gene_symbol":"DCAF17","hgnc_symbol":"DCAF17","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"2:172290727-172341562","ensembl_id":"ENSG00000115827"}},"GRch38":{"90":{"location":"2:171434217-171485052","ensembl_id":"ENSG00000115827"}}},"hgnc_date_symbol_changed":"2009-07-17"},"entity_type":"gene","entity_name":"DCAF17","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen"],"phenotypes":["Woodhouse-Sakati syndrome, 241080","WOODHOUSE-SAKATI SYNDROME (WOSAS)"],"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":["FLJ13096"],"biotype":"protein_coding","hgnc_id":"HGNC:25784","gene_name":"DDB1 and CUL4 associated factor 17","omim_gene":["612515"],"alias_name":["Woodhouse-Sakati syndrome"],"gene_symbol":"DCAF17","hgnc_symbol":"DCAF17","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:172290727-172341562","ensembl_id":"ENSG00000115827"}},"GRch38":{"90":{"location":"2:171434217-171485052","ensembl_id":"ENSG00000115827"}}},"hgnc_date_symbol_changed":"2009-07-17"},"entity_type":"gene","entity_name":"DCAF17","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","London North GLH","Expert Review Green"],"phenotypes":["Woodhouse-Sakati syndrome","Dystonia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":540,"hash_id":null,"name":"Adult onset movement disorder","disease_group":"","disease_sub_group":"","status":"public","version":"0.125","version_created":"2019-09-29T14:25:05.513850Z","relevant_disorders":["R56"],"stats":{"number_of_genes":202,"number_of_strs":11,"number_of_regions":1},"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)"}]}}]}
