{"count":5,"next":null,"previous":null,"results":[{"gene_data":{"alias":["PRR","PRR1","PVRR1","SK-12","HIgR","CLPED1","CD111","OFC7"],"biotype":"protein_coding","hgnc_id":"HGNC:9706","gene_name":"nectin cell adhesion molecule 1","omim_gene":["600644"],"alias_name":["nectin"],"gene_symbol":"NECTIN1","hgnc_symbol":"NECTIN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:119494120-119599794","ensembl_id":"ENSG00000110400"}},"GRch38":{"90":{"location":"11:119623408-119729084","ensembl_id":"ENSG00000110400"}}},"hgnc_date_symbol_changed":"2016-02-12"},"entity_type":"gene","entity_name":"NECTIN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["0932188","11559849"],"evidence":["Expert Review Green"],"phenotypes":["Cleft lip/palate-ectodermal dysplasia syndrome, 225060","Orofacial cleft 7, 225060"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":553,"hash_id":null,"name":"Ectodermal dysplasia","disease_group":"","disease_sub_group":"","status":"public","version":"0.22","version_created":"2019-09-17T19:00:33.930109Z","relevant_disorders":[],"stats":{"number_of_genes":71,"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":["PRR","PRR1","PVRR1","SK-12","HIgR","CLPED1","CD111","OFC7"],"biotype":"protein_coding","hgnc_id":"HGNC:9706","gene_name":"nectin cell adhesion molecule 1","omim_gene":["600644"],"alias_name":["nectin"],"gene_symbol":"NECTIN1","hgnc_symbol":"NECTIN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:119494120-119599794","ensembl_id":"ENSG00000110400"}},"GRch38":{"90":{"location":"11:119623408-119729084","ensembl_id":"ENSG00000110400"}}},"hgnc_date_symbol_changed":"2016-02-12"},"entity_type":"gene","entity_name":"NECTIN1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["0932188","11559849"],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen"],"phenotypes":["Cleft lip/palate-ectodermal dysplasia syndrome, 225060","Orofacial cleft 7, 225060"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":136,"hash_id":"561677af22c1fc212a6db65d","name":"Ectodermal dysplasia without a known gene mutation","disease_group":"Dermatological disorders","disease_sub_group":"Ectodermal dysplasias","status":"public","version":"1.19","version_created":"2019-06-20T15:15:01.983686Z","relevant_disorders":[],"stats":{"number_of_genes":29,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["PRR","PRR1","PVRR1","SK-12","HIgR","CLPED1","CD111","OFC7"],"biotype":"protein_coding","hgnc_id":"HGNC:9706","gene_name":"nectin cell adhesion molecule 1","omim_gene":["600644"],"alias_name":["nectin"],"gene_symbol":"NECTIN1","hgnc_symbol":"NECTIN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:119494120-119599794","ensembl_id":"ENSG00000110400"}},"GRch38":{"90":{"location":"11:119623408-119729084","ensembl_id":"ENSG00000110400"}}},"hgnc_date_symbol_changed":"2016-02-12"},"entity_type":"gene","entity_name":"NECTIN1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["10932188"],"evidence":["DD-Gene2Phenotype","Expert Review Red"],"phenotypes":["CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME 225060"],"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":["PRR","PRR1","PVRR1","SK-12","HIgR","CLPED1","CD111","OFC7"],"biotype":"protein_coding","hgnc_id":"HGNC:9706","gene_name":"nectin cell adhesion molecule 1","omim_gene":["600644"],"alias_name":["nectin"],"gene_symbol":"NECTIN1","hgnc_symbol":"NECTIN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:119494120-119599794","ensembl_id":"ENSG00000110400"}},"GRch38":{"90":{"location":"11:119623408-119729084","ensembl_id":"ENSG00000110400"}}},"hgnc_date_symbol_changed":"2016-02-12"},"entity_type":"gene","entity_name":"NECTIN1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["26953873","11559849","10932188"],"evidence":["Victorian Clinical Genetics Services","Expert Review Green","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen"],"phenotypes":["Cleft lip/Palate ectodermal dysplasia syndrome, 225060","Orofacial cleft 7, 225060","Cleft Lip with or without Cleft Palate","Zlotogora-Ogur syndrome","CLP, partial syndactyly of digits, intellectual disability, dysmorphism","Ectodermal dysplasia, Margarita Island type","Cleft lip"],"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":["PRR","PRR1","PVRR1","SK-12","HIgR","CLPED1","CD111","OFC7"],"biotype":"protein_coding","hgnc_id":"HGNC:9706","gene_name":"nectin cell adhesion molecule 1","omim_gene":["600644"],"alias_name":["nectin"],"gene_symbol":"NECTIN1","hgnc_symbol":"NECTIN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:119494120-119599794","ensembl_id":"ENSG00000110400"}},"GRch38":{"90":{"location":"11:119623408-119729084","ensembl_id":"ENSG00000110400"}}},"hgnc_date_symbol_changed":"2016-02-12"},"entity_type":"gene","entity_name":"NECTIN1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Radboud University Medical Center, Nijmegen"],"phenotypes":["Cleft lip/palate-ectodermal dysplasia syndrome, 225060Orofacial cleft 7, 225060","CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME"],"mode_of_inheritance":"","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"}]}}]}
