{"count":8,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2867","gene_name":"dihydroorotate dehydrogenase (quinone)","omim_gene":["126064"],"alias_name":null,"gene_symbol":"DHODH","hgnc_symbol":"DHODH","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"16:72042487-72058954","ensembl_id":"ENSG00000102967"}},"GRch38":{"90":{"location":"16:72008588-72027664","ensembl_id":"ENSG00000102967"}}},"hgnc_date_symbol_changed":"1993-06-29"},"entity_type":"gene","entity_name":"DHODH","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["19915526","1446837","19915526","20220176","21430780","8211381","22692683","21851494","https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3870197/"],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen","Expert list"],"phenotypes":["Bilateral Microtia","263750","Postaxial acrofacial dystostosis (POADS)","Miller syndrome, 263750","Causes Miller syndrome with bilateral microtia","syndromic features","Miller syndrome","postaxial acrofacial dysostosis","raniofacial abnormalities include underdevelopment of the cheekbones (malar hypoplasia)","an abnormally small lower jaw (micrognathia)","incomplete closure of the roof of the mouth (cleft palate)","small, protruding, “cup-shaped” ears","and/or absence of tissue (colobomas) from the lower eyelids"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":251,"hash_id":"57f4dbd18f62036d37cfe4e4","name":"Deafness and congenital structural abnormalities","disease_group":"Hearing and ear disorders","disease_sub_group":"Deafness and congenital structural abnormalities","status":"public","version":"1.17","version_created":"2019-06-20T15:10:56.166309Z","relevant_disorders":["Bilateral microtia","Ear malformations with hearing impairment","Ear malformations","Familial hemifacial microsomia"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2867","gene_name":"dihydroorotate dehydrogenase (quinone)","omim_gene":["126064"],"alias_name":null,"gene_symbol":"DHODH","hgnc_symbol":"DHODH","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"16:72042487-72058954","ensembl_id":"ENSG00000102967"}},"GRch38":{"90":{"location":"16:72008588-72027664","ensembl_id":"ENSG00000102967"}}},"hgnc_date_symbol_changed":"1993-06-29"},"entity_type":"gene","entity_name":"DHODH","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services","Expert list",""],"phenotypes":["Miller syndrome (postaxial acrofacial dysostosis) 263750"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:2867","gene_name":"dihydroorotate dehydrogenase (quinone)","omim_gene":["126064"],"alias_name":null,"gene_symbol":"DHODH","hgnc_symbol":"DHODH","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"16:72042487-72058954","ensembl_id":"ENSG00000102967"}},"GRch38":{"90":{"location":"16:72008588-72027664","ensembl_id":"ENSG00000102967"}}},"hgnc_date_symbol_changed":"1993-06-29"},"entity_type":"gene","entity_name":"DHODH","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308","19915526","27626380"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Miller syndrome 263750"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:2867","gene_name":"dihydroorotate dehydrogenase (quinone)","omim_gene":["126064"],"alias_name":null,"gene_symbol":"DHODH","hgnc_symbol":"DHODH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:72042487-72058954","ensembl_id":"ENSG00000102967"}},"GRch38":{"90":{"location":"16:72008588-72027664","ensembl_id":"ENSG00000102967"}}},"hgnc_date_symbol_changed":"1993-06-29"},"entity_type":"gene","entity_name":"DHODH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308","19915526","27626380"],"evidence":["Expert Review Green","London North GLH","NHS GMS"],"phenotypes":["Miller syndrome 263750"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:2867","gene_name":"dihydroorotate dehydrogenase (quinone)","omim_gene":["126064"],"alias_name":null,"gene_symbol":"DHODH","hgnc_symbol":"DHODH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:72042487-72058954","ensembl_id":"ENSG00000102967"}},"GRch38":{"90":{"location":"16:72008588-72027664","ensembl_id":"ENSG00000102967"}}},"hgnc_date_symbol_changed":"1993-06-29"},"entity_type":"gene","entity_name":"DHODH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["PAGE DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["POSTAXIAL ACROFACIAL DYSOSTOSIS"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:2867","gene_name":"dihydroorotate dehydrogenase (quinone)","omim_gene":["126064"],"alias_name":null,"gene_symbol":"DHODH","hgnc_symbol":"DHODH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:72042487-72058954","ensembl_id":"ENSG00000102967"}},"GRch38":{"90":{"location":"16:72008588-72027664","ensembl_id":"ENSG00000102967"}}},"hgnc_date_symbol_changed":"1993-06-29"},"entity_type":"gene","entity_name":"DHODH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19915526"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["POSTAXIAL ACROFACIAL DYSOSTOSIS 263750"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:2867","gene_name":"dihydroorotate dehydrogenase (quinone)","omim_gene":["126064"],"alias_name":null,"gene_symbol":"DHODH","hgnc_symbol":"DHODH","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"16:72042487-72058954","ensembl_id":"ENSG00000102967"}},"GRch38":{"90":{"location":"16:72008588-72027664","ensembl_id":"ENSG00000102967"}}},"hgnc_date_symbol_changed":"1993-06-29"},"entity_type":"gene","entity_name":"DHODH","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["POSTAXIAL ACROFACIAL DYSOSTOSIS","POADS = MILLER"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:2867","gene_name":"dihydroorotate dehydrogenase (quinone)","omim_gene":["126064"],"alias_name":null,"gene_symbol":"DHODH","hgnc_symbol":"DHODH","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"16:72042487-72058954","ensembl_id":"ENSG00000102967"}},"GRch38":{"90":{"location":"16:72008588-72027664","ensembl_id":"ENSG00000102967"}}},"hgnc_date_symbol_changed":"1993-06-29"},"entity_type":"gene","entity_name":"DHODH","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Miller syndrome OMIM: 126064"],"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"}]}}]}
