{"count":6,"next":null,"previous":null,"results":[{"gene_data":{"alias":["p190","Caspr","CNTNAP"],"biotype":"protein_coding","hgnc_id":"HGNC:8011","gene_name":"contactin associated protein 1","omim_gene":["602346"],"alias_name":["neurexin 4"],"gene_symbol":"CNTNAP1","hgnc_symbol":"CNTNAP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40834631-40851832","ensembl_id":"ENSG00000108797"}},"GRch38":{"90":{"location":"17:42682613-42699814","ensembl_id":"ENSG00000108797"}}},"hgnc_date_symbol_changed":"1998-10-14"},"entity_type":"gene","entity_name":"CNTNAP1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["29882456"],"evidence":["Expert Review Red"],"phenotypes":[],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":476,"hash_id":null,"name":"White matter disorders and cerebral calcification - narrow panel","disease_group":"","disease_sub_group":"","status":"public","version":"1.9","version_created":"2019-08-08T11:56:25.970239Z","relevant_disorders":[],"stats":{"number_of_genes":191,"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":["p190","Caspr","CNTNAP"],"biotype":"protein_coding","hgnc_id":"HGNC:8011","gene_name":"contactin associated protein 1","omim_gene":["602346"],"alias_name":["neurexin 4"],"gene_symbol":"CNTNAP1","hgnc_symbol":"CNTNAP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40834631-40851832","ensembl_id":"ENSG00000108797"}},"GRch38":{"90":{"location":"17:42682613-42699814","ensembl_id":"ENSG00000108797"}}},"hgnc_date_symbol_changed":"1998-10-14"},"entity_type":"gene","entity_name":"CNTNAP1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["29882456"],"evidence":["Expert Review Red","Literature"],"phenotypes":[],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":42,"hash_id":"568f920822c1fc1c79ca177a","name":"Inherited white matter disorders","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"White matter disorders","status":"public","version":"1.71","version_created":"2019-08-08T12:01:29.978699Z","relevant_disorders":["Leukodystrophy - adult onset"],"stats":{"number_of_genes":166,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["p190","Caspr","CNTNAP"],"biotype":"protein_coding","hgnc_id":"HGNC:8011","gene_name":"contactin associated protein 1","omim_gene":["602346"],"alias_name":["neurexin 4"],"gene_symbol":"CNTNAP1","hgnc_symbol":"CNTNAP1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"17:40834631-40851832","ensembl_id":"ENSG00000108797"}},"GRch38":{"90":{"location":"17:42682613-42699814","ensembl_id":"ENSG00000108797"}}},"hgnc_date_symbol_changed":"1998-10-14"},"entity_type":"gene","entity_name":"CNTNAP1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["24319099"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Lethal congenital contracture syndrome 7   616286"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":258,"hash_id":"55b75d5b22c1fc05fd2345c9","name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neuromuscular disorders","status":"public","version":"2.45","version_created":"2019-10-07T10:19:07.721001Z","relevant_disorders":["Arthrogrythsis"],"stats":{"number_of_genes":246,"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","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":["p190","Caspr","CNTNAP"],"biotype":"protein_coding","hgnc_id":"HGNC:8011","gene_name":"contactin associated protein 1","omim_gene":["602346"],"alias_name":["neurexin 4"],"gene_symbol":"CNTNAP1","hgnc_symbol":"CNTNAP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40834631-40851832","ensembl_id":"ENSG00000108797"}},"GRch38":{"90":{"location":"17:42682613-42699814","ensembl_id":"ENSG00000108797"}}},"hgnc_date_symbol_changed":"1998-10-14"},"entity_type":"gene","entity_name":"CNTNAP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","PAGE DD-Gene2Phenotype"],"phenotypes":["LETHAL CONGENITAL CONTRACTURE SYNDROME 7"],"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":["p190","Caspr","CNTNAP"],"biotype":"protein_coding","hgnc_id":"HGNC:8011","gene_name":"contactin associated protein 1","omim_gene":["602346"],"alias_name":["neurexin 4"],"gene_symbol":"CNTNAP1","hgnc_symbol":"CNTNAP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40834631-40851832","ensembl_id":"ENSG00000108797"}},"GRch38":{"90":{"location":"17:42682613-42699814","ensembl_id":"ENSG00000108797"}}},"hgnc_date_symbol_changed":"1998-10-14"},"entity_type":"gene","entity_name":"CNTNAP1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["24319099"],"evidence":["DD-Gene2Phenotype","Expert Review Amber"],"phenotypes":["LETHAL CONGENITAL CONTRACTURE SYNDROME 7 616286"],"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":["p190","Caspr","CNTNAP"],"biotype":"protein_coding","hgnc_id":"HGNC:8011","gene_name":"contactin associated protein 1","omim_gene":["602346"],"alias_name":["neurexin 4"],"gene_symbol":"CNTNAP1","hgnc_symbol":"CNTNAP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40834631-40851832","ensembl_id":"ENSG00000108797"}},"GRch38":{"90":{"location":"17:42682613-42699814","ensembl_id":"ENSG00000108797"}}},"hgnc_date_symbol_changed":"1998-10-14"},"entity_type":"gene","entity_name":"CNTNAP1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","London North GLH"],"phenotypes":["Hypomyelinating neuropathy, congenital, 3, 618186"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":85,"hash_id":"55ad205422c1fc7041340234","name":"Hereditary neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor and Sensory Disorders of the PNS","status":"public","version":"1.333","version_created":"2019-07-09T13:10:50.031506Z","relevant_disorders":["Charcot-Marie-Tooth disease"],"stats":{"number_of_genes":276,"number_of_strs":11,"number_of_regions":2},"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."}]}}]}
