{"count":13,"next":null,"previous":null,"results":[{"gene_data":{"alias":["CPX","CPXD","CHO2"],"biotype":"protein_coding","hgnc_id":"HGNC:3133","gene_name":"emopamil binding protein (sterol isomerase)","omim_gene":["300205"],"alias_name":["3-beta-hydroxysteroid-delta-8,delta-7-isomerase","Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)","sterol 8-isomerase"],"gene_symbol":"EBP","hgnc_symbol":"EBP","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:48379546-48387104","ensembl_id":"ENSG00000147155"}},"GRch38":{"90":{"location":"X:48521158-48528716","ensembl_id":"ENSG00000147155"}}},"hgnc_date_symbol_changed":"2000-02-21"},"entity_type":"gene","entity_name":"EBP","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","UKGTN"],"phenotypes":["Chondrodysplasia punctata, X-linked dominant, 302960","X-linked dominant chondrodysplasia punctata","MEND syndrome"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":30,"hash_id":"554a0ac9bb5a167e4ccd1ec0","name":"Chondrodysplasia punctata","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","status":"public","version":"1.2","version_created":"2017-11-05T02:37:19.878296Z","relevant_disorders":[],"stats":{"number_of_genes":5,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["CPX","CPXD","CHO2"],"biotype":"protein_coding","hgnc_id":"HGNC:3133","gene_name":"emopamil binding protein (sterol isomerase)","omim_gene":["300205"],"alias_name":["3-beta-hydroxysteroid-delta-8,delta-7-isomerase","Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)","sterol 8-isomerase"],"gene_symbol":"EBP","hgnc_symbol":"EBP","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:48379546-48387104","ensembl_id":"ENSG00000147155"}},"GRch38":{"90":{"location":"X:48521158-48528716","ensembl_id":"ENSG00000147155"}}},"hgnc_date_symbol_changed":"2000-02-21"},"entity_type":"gene","entity_name":"EBP","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory","UKGTN"],"phenotypes":["Chondrodysplasia punctata, X-linked dominant 302960 XLD","MEND syndrome 300960 XLR"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":114,"hash_id":"57b6f5058f6203767a308772","name":"Peroxisomal disorders","disease_group":"Metabolic disorders","disease_sub_group":"Peroxisomal disorders","status":"public","version":"1.6","version_created":"2017-11-05T02:37:20.056128Z","relevant_disorders":["Other peroxisomal disorders","Peroxisomal biogenesis disorders"],"stats":{"number_of_genes":37,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["CPX","CPXD","CHO2"],"biotype":"protein_coding","hgnc_id":"HGNC:3133","gene_name":"emopamil binding protein (sterol isomerase)","omim_gene":["300205"],"alias_name":["3-beta-hydroxysteroid-delta-8,delta-7-isomerase","Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)","sterol 8-isomerase"],"gene_symbol":"EBP","hgnc_symbol":"EBP","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:48379546-48387104","ensembl_id":"ENSG00000147155"}},"GRch38":{"90":{"location":"X:48521158-48528716","ensembl_id":"ENSG00000147155"}}},"hgnc_date_symbol_changed":"2000-02-21"},"entity_type":"gene","entity_name":"EBP","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["23137060","6408138"],"evidence":["Literature"],"phenotypes":["Chondrodysplasia punctata, X-linked dominant, 302960","Conradi Huenermann: Chondrodysplasia punctata"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":144,"hash_id":"5763f4868f620350a199604f","name":"Fetal hydrops","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Fetal disorders","status":"public","version":"1.16","version_created":"2018-12-05T18:38:09.145885Z","relevant_disorders":[],"stats":{"number_of_genes":67,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["CPX","CPXD","CHO2"],"biotype":"protein_coding","hgnc_id":"HGNC:3133","gene_name":"emopamil binding protein (sterol isomerase)","omim_gene":["300205"],"alias_name":["3-beta-hydroxysteroid-delta-8,delta-7-isomerase","Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)","sterol 8-isomerase"],"gene_symbol":"EBP","hgnc_symbol":"EBP","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:48379546-48387104","ensembl_id":"ENSG00000147155"}},"GRch38":{"90":{"location":"X:48521158-48528716","ensembl_id":"ENSG00000147155"}}},"hgnc_date_symbol_changed":"2000-02-21"},"entity_type":"gene","entity_name":"EBP","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":["20949533"],"evidence":["NHS GMS","Expert Review Amber","Literature"],"phenotypes":["MEND syndrome"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":["watchlist"],"panel":{"id":179,"hash_id":"5763f35c8f620350a22bccdf","name":"Hydrocephalus","disease_group":"","disease_sub_group":"","status":"public","version":"1.38","version_created":"2019-09-30T12:37:55.307389Z","relevant_disorders":["Hydrocephalus;R86"],"stats":{"number_of_genes":98,"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":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["CPX","CPXD","CHO2"],"biotype":"protein_coding","hgnc_id":"HGNC:3133","gene_name":"emopamil binding protein (sterol isomerase)","omim_gene":["300205"],"alias_name":["3-beta-hydroxysteroid-delta-8,delta-7-isomerase","Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)","sterol 8-isomerase"],"gene_symbol":"EBP","hgnc_symbol":"EBP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:48379546-48387104","ensembl_id":"ENSG00000147155"}},"GRch38":{"90":{"location":"X:48521158-48528716","ensembl_id":"ENSG00000147155"}}},"hgnc_date_symbol_changed":"2000-02-21"},"entity_type":"gene","entity_name":"EBP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["10942423","10391218","10391219","12509714"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Polydactyly","Chondrodysplasia punctata, X-linked dominant 302960"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":384,"hash_id":null,"name":"Limb disorders","disease_group":"","disease_sub_group":"","status":"public","version":"1.61","version_created":"2019-10-03T10:01:34.398179Z","relevant_disorders":[],"stats":{"number_of_genes":234,"number_of_strs":0,"number_of_regions":1},"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":["CPX","CPXD","CHO2"],"biotype":"protein_coding","hgnc_id":"HGNC:3133","gene_name":"emopamil binding protein (sterol isomerase)","omim_gene":["300205"],"alias_name":["3-beta-hydroxysteroid-delta-8,delta-7-isomerase","Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)","sterol 8-isomerase"],"gene_symbol":"EBP","hgnc_symbol":"EBP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:48379546-48387104","ensembl_id":"ENSG00000147155"}},"GRch38":{"90":{"location":"X:48521158-48528716","ensembl_id":"ENSG00000147155"}}},"hgnc_date_symbol_changed":"2000-02-21"},"entity_type":"gene","entity_name":"EBP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Conradi-Hunnermann-Happle syndrome"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":556,"hash_id":null,"name":"Palmoplantar keratodermas","disease_group":"","disease_sub_group":"","status":"public","version":"0.9","version_created":"2019-09-09T15:38:38.871976Z","relevant_disorders":[],"stats":{"number_of_genes":69,"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":["CPX","CPXD","CHO2"],"biotype":"protein_coding","hgnc_id":"HGNC:3133","gene_name":"emopamil binding protein (sterol isomerase)","omim_gene":["300205"],"alias_name":["3-beta-hydroxysteroid-delta-8,delta-7-isomerase","Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)","sterol 8-isomerase"],"gene_symbol":"EBP","hgnc_symbol":"EBP","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:48379546-48387104","ensembl_id":"ENSG00000147155"}},"GRch38":{"90":{"location":"X:48521158-48528716","ensembl_id":"ENSG00000147155"}}},"hgnc_date_symbol_changed":"2000-02-21"},"entity_type":"gene","entity_name":"EBP","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","","Radboud University Medical Center, Nijmegen","Expert Review Green","UKGTN"],"phenotypes":["X-linked dominant chondrodysplasia punctata","CDPXLD","MEND syndrome","Chondrodysplasia punctata, X-linked dominant, 302960","MEND syndrome-300960 XLR."],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","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":["CPX","CPXD","CHO2"],"biotype":"protein_coding","hgnc_id":"HGNC:3133","gene_name":"emopamil binding protein (sterol isomerase)","omim_gene":["300205"],"alias_name":["3-beta-hydroxysteroid-delta-8,delta-7-isomerase","Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)","sterol 8-isomerase"],"gene_symbol":"EBP","hgnc_symbol":"EBP","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:48379546-48387104","ensembl_id":"ENSG00000147155"}},"GRch38":{"90":{"location":"X:48521158-48528716","ensembl_id":"ENSG00000147155"}}},"hgnc_date_symbol_changed":"2000-02-21"},"entity_type":"gene","entity_name":"EBP","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308"],"evidence":["Expert Review Green","Literature"],"phenotypes":["X-linked dominant chondrodysplasia punctata 2 (Disorders of sterol biosynthesis)","Chondrodysplasia punctata, X-linked dominant 302960 XLD","MEND syndrome 300960 XLR"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","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":["CPX","CPXD","CHO2"],"biotype":"protein_coding","hgnc_id":"HGNC:3133","gene_name":"emopamil binding protein (sterol isomerase)","omim_gene":["300205"],"alias_name":["3-beta-hydroxysteroid-delta-8,delta-7-isomerase","Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)","sterol 8-isomerase"],"gene_symbol":"EBP","hgnc_symbol":"EBP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:48379546-48387104","ensembl_id":"ENSG00000147155"}},"GRch38":{"90":{"location":"X:48521158-48528716","ensembl_id":"ENSG00000147155"}}},"hgnc_date_symbol_changed":"2000-02-21"},"entity_type":"gene","entity_name":"EBP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308"],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["MEND syndrome 300960 XLR","Chondrodysplasia punctata, X-linked dominant 302960 XLD","X-linked dominant chondrodysplasia punctata 2 (Disorders of sterol biosynthesis)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","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":["CPX","CPXD","CHO2"],"biotype":"protein_coding","hgnc_id":"HGNC:3133","gene_name":"emopamil binding protein (sterol isomerase)","omim_gene":["300205"],"alias_name":["3-beta-hydroxysteroid-delta-8,delta-7-isomerase","Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)","sterol 8-isomerase"],"gene_symbol":"EBP","hgnc_symbol":"EBP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:48379546-48387104","ensembl_id":"ENSG00000147155"}},"GRch38":{"90":{"location":"X:48521158-48528716","ensembl_id":"ENSG00000147155"}}},"hgnc_date_symbol_changed":"2000-02-21"},"entity_type":"gene","entity_name":"EBP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["PAGE DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["CHONDRODYSPLASIA PUNCTATA 2, X-LINKED"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","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":["CPX","CPXD","CHO2"],"biotype":"protein_coding","hgnc_id":"HGNC:3133","gene_name":"emopamil binding protein (sterol isomerase)","omim_gene":["300205"],"alias_name":["3-beta-hydroxysteroid-delta-8,delta-7-isomerase","Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)","sterol 8-isomerase"],"gene_symbol":"EBP","hgnc_symbol":"EBP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:48379546-48387104","ensembl_id":"ENSG00000147155"}},"GRch38":{"90":{"location":"X:48521158-48528716","ensembl_id":"ENSG00000147155"}}},"hgnc_date_symbol_changed":"2000-02-21"},"entity_type":"gene","entity_name":"EBP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10942423","10391218","10391219","11038443","12503101"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["CHONDRODYSPLASIA PUNCTATA 2, X-LINKED 302960"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","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":["CPX","CPXD","CHO2"],"biotype":"protein_coding","hgnc_id":"HGNC:3133","gene_name":"emopamil binding protein (sterol isomerase)","omim_gene":["300205"],"alias_name":["3-beta-hydroxysteroid-delta-8,delta-7-isomerase","Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)","sterol 8-isomerase"],"gene_symbol":"EBP","hgnc_symbol":"EBP","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:48379546-48387104","ensembl_id":"ENSG00000147155"}},"GRch38":{"90":{"location":"X:48521158-48528716","ensembl_id":"ENSG00000147155"}}},"hgnc_date_symbol_changed":"2000-02-21"},"entity_type":"gene","entity_name":"EBP","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["MEND SYNDROME","MEND"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["CPX","CPXD","CHO2"],"biotype":"protein_coding","hgnc_id":"HGNC:3133","gene_name":"emopamil binding protein (sterol isomerase)","omim_gene":["300205"],"alias_name":["3-beta-hydroxysteroid-delta-8,delta-7-isomerase","Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)","sterol 8-isomerase"],"gene_symbol":"EBP","hgnc_symbol":"EBP","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:48379546-48387104","ensembl_id":"ENSG00000147155"}},"GRch38":{"90":{"location":"X:48521158-48528716","ensembl_id":"ENSG00000147155"}}},"hgnc_date_symbol_changed":"2000-02-21"},"entity_type":"gene","entity_name":"EBP","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["10391219","10942423","12503101","11038443","10391218"],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":["CHONDRODYSPLASIA PUNCTATA 2, X-LINKED"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","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"}]}}]}