{"count":7,"next":null,"previous":null,"results":[{"gene_data":{"alias":["SNAP-29","CEDNIK"],"biotype":"protein_coding","hgnc_id":"HGNC:11133","gene_name":"synaptosome associated protein 29","omim_gene":["604202"],"alias_name":["soluble 29 kDa NSF attachment protein"],"gene_symbol":"SNAP29","hgnc_symbol":"SNAP29","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"22:21213271-21245506","ensembl_id":"ENSG00000099940"}},"GRch38":{"90":{"location":"22:20858983-20891218","ensembl_id":"ENSG00000099940"}}},"hgnc_date_symbol_changed":"1998-12-17"},"entity_type":"gene","entity_name":"SNAP29","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["21073448","15968592","25958742"],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen"],"phenotypes":["Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma, 609528","CEDNIK syndrome","Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":215,"hash_id":"562f5e7822c1fc582756e3bb","name":"Palmoplantar keratoderma and erythrokeratodermas","disease_group":"Dermatological disorders","disease_sub_group":"Keratodermas","status":"public","version":"1.16","version_created":"2019-06-20T15:15:14.882420Z","relevant_disorders":[],"stats":{"number_of_genes":45,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["SNAP-29","CEDNIK"],"biotype":"protein_coding","hgnc_id":"HGNC:11133","gene_name":"synaptosome associated protein 29","omim_gene":["604202"],"alias_name":["soluble 29 kDa NSF attachment protein"],"gene_symbol":"SNAP29","hgnc_symbol":"SNAP29","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:21213271-21245506","ensembl_id":"ENSG00000099940"}},"GRch38":{"90":{"location":"22:20858983-20891218","ensembl_id":"ENSG00000099940"}}},"hgnc_date_symbol_changed":"1998-12-17"},"entity_type":"gene","entity_name":"SNAP29","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25958742","21073448","15968592"],"evidence":["Expert Review Green"],"phenotypes":["CEDNIK syndrome","Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome","Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma, 609528"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":555,"hash_id":null,"name":"Ichthyosis and erythrokeratoderma","disease_group":"","disease_sub_group":"","status":"public","version":"0.10","version_created":"2019-09-09T15:38:37.080974Z","relevant_disorders":[],"stats":{"number_of_genes":64,"number_of_strs":0,"number_of_regions":1},"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":["SNAP-29","CEDNIK"],"biotype":"protein_coding","hgnc_id":"HGNC:11133","gene_name":"synaptosome associated protein 29","omim_gene":["604202"],"alias_name":["soluble 29 kDa NSF attachment protein"],"gene_symbol":"SNAP29","hgnc_symbol":"SNAP29","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"22:21213271-21245506","ensembl_id":"ENSG00000099940"}},"GRch38":{"90":{"location":"22:20858983-20891218","ensembl_id":"ENSG00000099940"}}},"hgnc_date_symbol_changed":"1998-12-17"},"entity_type":"gene","entity_name":"SNAP29","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["26927810","15968592","23231787","25958742"],"evidence":["Expert Review Green","Literature"],"phenotypes":["CEDNIK","Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":222,"hash_id":"553f94b3bb5a1616e5ed4593","name":"Vici Syndrome and other autophagy disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Autophagy disorders","status":"public","version":"1.2","version_created":"2019-01-09T13:01:54.387365Z","relevant_disorders":[],"stats":{"number_of_genes":12,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["SNAP-29","CEDNIK"],"biotype":"protein_coding","hgnc_id":"HGNC:11133","gene_name":"synaptosome associated protein 29","omim_gene":["604202"],"alias_name":["soluble 29 kDa NSF attachment protein"],"gene_symbol":"SNAP29","hgnc_symbol":"SNAP29","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:21213271-21245506","ensembl_id":"ENSG00000099940"}},"GRch38":{"90":{"location":"22:20858983-20891218","ensembl_id":"ENSG00000099940"}}},"hgnc_date_symbol_changed":"1998-12-17"},"entity_type":"gene","entity_name":"SNAP29","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["SNAP-29","CEDNIK"],"biotype":"protein_coding","hgnc_id":"HGNC:11133","gene_name":"synaptosome associated protein 29","omim_gene":["604202"],"alias_name":["soluble 29 kDa NSF attachment protein"],"gene_symbol":"SNAP29","hgnc_symbol":"SNAP29","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:21213271-21245506","ensembl_id":"ENSG00000099940"}},"GRch38":{"90":{"location":"22:20858983-20891218","ensembl_id":"ENSG00000099940"}}},"hgnc_date_symbol_changed":"1998-12-17"},"entity_type":"gene","entity_name":"SNAP29","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","PAGE DD-Gene2Phenotype"],"phenotypes":["CEDNIK SYNDROME"],"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":["SNAP-29","CEDNIK"],"biotype":"protein_coding","hgnc_id":"HGNC:11133","gene_name":"synaptosome associated protein 29","omim_gene":["604202"],"alias_name":["soluble 29 kDa NSF attachment protein"],"gene_symbol":"SNAP29","hgnc_symbol":"SNAP29","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:21213271-21245506","ensembl_id":"ENSG00000099940"}},"GRch38":{"90":{"location":"22:20858983-20891218","ensembl_id":"ENSG00000099940"}}},"hgnc_date_symbol_changed":"1998-12-17"},"entity_type":"gene","entity_name":"SNAP29","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["15968592","21073448"],"evidence":["DD-Gene2Phenotype","Expert Review Amber"],"phenotypes":["CEDNIK SYNDROME 609528"],"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":["SNAP-29","CEDNIK"],"biotype":"protein_coding","hgnc_id":"HGNC:11133","gene_name":"synaptosome associated protein 29","omim_gene":["604202"],"alias_name":["soluble 29 kDa NSF attachment protein"],"gene_symbol":"SNAP29","hgnc_symbol":"SNAP29","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"22:21213271-21245506","ensembl_id":"ENSG00000099940"}},"GRch38":{"90":{"location":"22:20858983-20891218","ensembl_id":"ENSG00000099940"}}},"hgnc_date_symbol_changed":"1998-12-17"},"entity_type":"gene","entity_name":"SNAP29","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen"],"phenotypes":["Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528","CEDNIK SYNDROME"],"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"}]}}]}
