{"count":10,"next":null,"previous":null,"results":[{"gene_data":{"alias":["HDS","FLJ13102","DS","RP59"],"biotype":"protein_coding","hgnc_id":"HGNC:20603","gene_name":"dehydrodolichyl diphosphate synthase subunit","omim_gene":["608172"],"alias_name":null,"gene_symbol":"DHDDS","hgnc_symbol":"DHDDS","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:26758773-26797785","ensembl_id":"ENSG00000117682"}},"GRch38":{"90":{"location":"1:26432282-26471294","ensembl_id":"ENSG00000117682"}}},"hgnc_date_symbol_changed":"2003-05-22"},"entity_type":"gene","entity_name":"DHDDS","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Emory Genetics Laboratory"],"phenotypes":["Eye Disorders"],"mode_of_inheritance":"","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":["HDS","FLJ13102","DS","RP59"],"biotype":"protein_coding","hgnc_id":"HGNC:20603","gene_name":"dehydrodolichyl diphosphate synthase subunit","omim_gene":["608172"],"alias_name":null,"gene_symbol":"DHDDS","hgnc_symbol":"DHDDS","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:26758773-26797785","ensembl_id":"ENSG00000117682"}},"GRch38":{"90":{"location":"1:26432282-26471294","ensembl_id":"ENSG00000117682"}}},"hgnc_date_symbol_changed":"2003-05-22"},"entity_type":"gene","entity_name":"DHDDS","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27343064","21295282","21295283"],"evidence":["Expert Review Red","UKGTN","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services","Emory Genetics Laboratory"],"phenotypes":["Retinitis pigmentosa 59 613861","?Congenital disorder of glycosylation, type 1bb 613861"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":25,"hash_id":"58346b8b8f62036225ca8a7d","name":"Congenital disorders of glycosylation","disease_group":"Metabolic disorders","disease_sub_group":"Specific metabolic abnormalities","status":"public","version":"1.32","version_created":"2019-10-07T16:15:06.398101Z","relevant_disorders":["Congential disorders of glycosylation"],"stats":{"number_of_genes":100,"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":["HDS","FLJ13102","DS","RP59"],"biotype":"protein_coding","hgnc_id":"HGNC:20603","gene_name":"dehydrodolichyl diphosphate synthase subunit","omim_gene":["608172"],"alias_name":null,"gene_symbol":"DHDDS","hgnc_symbol":"DHDDS","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:26758773-26797785","ensembl_id":"ENSG00000117682"}},"GRch38":{"90":{"location":"1:26432282-26471294","ensembl_id":"ENSG00000117682"}}},"hgnc_date_symbol_changed":"2003-05-22"},"entity_type":"gene","entity_name":"DHDDS","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Retinitis pigmentosa (other congenital disorders of glycosylation)","Posterior segment abnormalities"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":302,"hash_id":"5763f1518f620350a22bccdb","name":"Undiagnosed metabolic disorders","disease_group":"Metabolic disorders","disease_sub_group":"Specific metabolic abnormalities","status":"public","version":"1.373","version_created":"2019-10-08T14:47:17.153678Z","relevant_disorders":["Undiagnosed Metabolic Panel"],"stats":{"number_of_genes":744,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["HDS","FLJ13102","DS","RP59"],"biotype":"protein_coding","hgnc_id":"HGNC:20603","gene_name":"dehydrodolichyl diphosphate synthase subunit","omim_gene":["608172"],"alias_name":null,"gene_symbol":"DHDDS","hgnc_symbol":"DHDDS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:26758773-26797785","ensembl_id":"ENSG00000117682"}},"GRch38":{"90":{"location":"1:26432282-26471294","ensembl_id":"ENSG00000117682"}}},"hgnc_date_symbol_changed":"2003-05-22"},"entity_type":"gene","entity_name":"DHDDS","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["21295282","21295283","27343064"],"evidence":["Expert Review Amber","London North GLH","NHS GMS"],"phenotypes":["Retinitis pigmentosa 59 613861","?Congenital disorder of glycosylation, type 1bb 613861"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":467,"hash_id":null,"name":"Inborn errors of metabolism","disease_group":"","disease_sub_group":"","status":"public","version":"1.348","version_created":"2019-10-09T08:19:52.386941Z","relevant_disorders":["Likely inborn error of metabolism - targeted testing not possible"],"stats":{"number_of_genes":877,"number_of_strs":2,"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":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["HDS","FLJ13102","DS","RP59"],"biotype":"protein_coding","hgnc_id":"HGNC:20603","gene_name":"dehydrodolichyl diphosphate synthase subunit","omim_gene":["608172"],"alias_name":null,"gene_symbol":"DHDDS","hgnc_symbol":"DHDDS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:26758773-26797785","ensembl_id":"ENSG00000117682"}},"GRch38":{"90":{"location":"1:26432282-26471294","ensembl_id":"ENSG00000117682"}}},"hgnc_date_symbol_changed":"2003-05-22"},"entity_type":"gene","entity_name":"DHDDS","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","PAGE DD-Gene2Phenotype"],"phenotypes":["Epilepsy and intellectual disability"],"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":["HDS","FLJ13102","DS","RP59"],"biotype":"protein_coding","hgnc_id":"HGNC:20603","gene_name":"dehydrodolichyl diphosphate synthase subunit","omim_gene":["608172"],"alias_name":null,"gene_symbol":"DHDDS","hgnc_symbol":"DHDDS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:26758773-26797785","ensembl_id":"ENSG00000117682"}},"GRch38":{"90":{"location":"1:26432282-26471294","ensembl_id":"ENSG00000117682"}}},"hgnc_date_symbol_changed":"2003-05-22"},"entity_type":"gene","entity_name":"DHDDS","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":["29100083"],"evidence":["DD-Gene2Phenotype","Expert Review Amber"],"phenotypes":["Epilepsy and intellectual disability"],"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":["HDS","FLJ13102","DS","RP59"],"biotype":"protein_coding","hgnc_id":"HGNC:20603","gene_name":"dehydrodolichyl diphosphate synthase subunit","omim_gene":["608172"],"alias_name":null,"gene_symbol":"DHDDS","hgnc_symbol":"DHDDS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:26758773-26797785","ensembl_id":"ENSG00000117682"}},"GRch38":{"90":{"location":"1:26432282-26471294","ensembl_id":"ENSG00000117682"}}},"hgnc_date_symbol_changed":"2003-05-22"},"entity_type":"gene","entity_name":"DHDDS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27343064","29100083"],"evidence":["Wessex and West Midlands GLH","NHS GMS","Expert Review Green","Literature"],"phenotypes":["Developmental delay and seizures with or without movement abnormalities, 617836","developmental and epileptic encephalopathy (DEE)","?Congenital disorder of glycosylation, type 1bb,613861"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":402,"hash_id":null,"name":"Genetic epilepsy syndromes","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Inherited Epilepsy Syndromes","status":"public","version":"1.363","version_created":"2019-10-08T10:06:11.607307Z","relevant_disorders":["Epilepsy Plus","Epilepsy plus other features","Genetic Epilepsy Syndromes","Epileptic encephalopathy","Familial Focal Epilepsies","Familial Genetic Generalised Epilepsies","Genetic Epilepsies with Febrile Seizures Plus (GEFS+)","Genetic Epilepsies with Febrile Seizures Plus"],"stats":{"number_of_genes":614,"number_of_strs":2,"number_of_regions":13},"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":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["HDS","FLJ13102","DS","RP59"],"biotype":"protein_coding","hgnc_id":"HGNC:20603","gene_name":"dehydrodolichyl diphosphate synthase subunit","omim_gene":["608172"],"alias_name":null,"gene_symbol":"DHDDS","hgnc_symbol":"DHDDS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:26758773-26797785","ensembl_id":"ENSG00000117682"}},"GRch38":{"90":{"location":"1:26432282-26471294","ensembl_id":"ENSG00000117682"}}},"hgnc_date_symbol_changed":"2003-05-22"},"entity_type":"gene","entity_name":"DHDDS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29100083","27343064"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Developmental delay and seizures with or without movement abnormalities, 617836","?Congenital disorder of glycosylation, type 1bb, 613861"],"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":["HDS","FLJ13102","DS","RP59"],"biotype":"protein_coding","hgnc_id":"HGNC:20603","gene_name":"dehydrodolichyl diphosphate synthase subunit","omim_gene":["608172"],"alias_name":null,"gene_symbol":"DHDDS","hgnc_symbol":"DHDDS","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:26758773-26797785","ensembl_id":"ENSG00000117682"}},"GRch38":{"90":{"location":"1:26432282-26471294","ensembl_id":"ENSG00000117682"}}},"hgnc_date_symbol_changed":"2003-05-22"},"entity_type":"gene","entity_name":"DHDDS","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["Eye Disorders","Retinitis pigmentosa","Retinitis Pigmentosa, Recessive","Retinitis pigmentosa 59, 613861"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["HDS","FLJ13102","DS","RP59"],"biotype":"protein_coding","hgnc_id":"HGNC:20603","gene_name":"dehydrodolichyl diphosphate synthase subunit","omim_gene":["608172"],"alias_name":null,"gene_symbol":"DHDDS","hgnc_symbol":"DHDDS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:26758773-26797785","ensembl_id":"ENSG00000117682"}},"GRch38":{"90":{"location":"1:26432282-26471294","ensembl_id":"ENSG00000117682"}}},"hgnc_date_symbol_changed":"2003-05-22"},"entity_type":"gene","entity_name":"DHDDS","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Red"],"phenotypes":["Retinitis pigmentosa 59, 613861","Eye Disorders"],"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)"}]}}]}
