{"count":3,"next":null,"previous":null,"results":[{"gene_data":{"alias":["KIAA0926","DKFZp586O1822","CARD7","NAC","CLR17.1","DEFCAP","VAMAS1"],"biotype":"protein_coding","hgnc_id":"HGNC:14374","gene_name":"NLR family pyrin domain containing 1","omim_gene":["606636"],"alias_name":["nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"],"gene_symbol":"NLRP1","hgnc_symbol":"NLRP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:5402747-5522744","ensembl_id":"ENSG00000091592"}},"GRch38":{"90":{"location":"17:5499427-5619424","ensembl_id":"ENSG00000091592"}}},"hgnc_date_symbol_changed":"2006-12-08"},"entity_type":"gene","entity_name":"NLRP1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber"],"phenotypes":[],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":565,"hash_id":null,"name":"Rare genetic inflammatory skin disorders","disease_group":"","disease_sub_group":"","status":"public","version":"0.14","version_created":"2019-09-09T15:38:40.627314Z","relevant_disorders":[],"stats":{"number_of_genes":60,"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":["KIAA0926","DKFZp586O1822","CARD7","NAC","CLR17.1","DEFCAP","VAMAS1"],"biotype":"protein_coding","hgnc_id":"HGNC:14374","gene_name":"NLR family pyrin domain containing 1","omim_gene":["606636"],"alias_name":["nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"],"gene_symbol":"NLRP1","hgnc_symbol":"NLRP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:5402747-5522744","ensembl_id":"ENSG00000091592"}},"GRch38":{"90":{"location":"17:5499427-5619424","ensembl_id":"ENSG00000091592"}}},"hgnc_date_symbol_changed":"2006-12-08"},"entity_type":"gene","entity_name":"NLRP1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Radboud University Medical Center, Nijmegen"],"phenotypes":["Autoinflammation with arthritis and dyskeratosis (617388)"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":209,"hash_id":"58c8066b8f6203413360f1cf","name":"Ductal plate malformation","disease_group":"","disease_sub_group":"","status":"public","version":"1.10","version_created":"2019-06-20T15:10:58.988548Z","relevant_disorders":["Ductal plate malformation (DPM)","Polycystic liver disease"],"stats":{"number_of_genes":150,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["KIAA0926","DKFZp586O1822","CARD7","NAC","CLR17.1","DEFCAP","VAMAS1"],"biotype":"protein_coding","hgnc_id":"HGNC:14374","gene_name":"NLR family pyrin domain containing 1","omim_gene":["606636"],"alias_name":["nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"],"gene_symbol":"NLRP1","hgnc_symbol":"NLRP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:5402747-5522744","ensembl_id":"ENSG00000091592"}},"GRch38":{"90":{"location":"17:5499427-5619424","ensembl_id":"ENSG00000091592"}}},"hgnc_date_symbol_changed":"2006-12-08"},"entity_type":"gene","entity_name":"NLRP1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["27965258","29850521"],"evidence":["Expert Review Amber","NHS GMS","North West GLH","London North GLH","IUIS Classification February 2018"],"phenotypes":["Dyskeratosis, autoimmunity and arthritis","Autoinflammatory Disorders","Autoinflammation with arthritis and dyskeratosis"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":398,"hash_id":null,"name":"Primary immunodeficiency","disease_group":"","disease_sub_group":"","status":"public","version":"1.132","version_created":"2019-09-27T14:37:49.085568Z","relevant_disorders":["Primary immunodeficiency disorders","A- or hypo-gammaglobulinaemia","Congenital neutropaenia","Agranulocytosis","Combined B and T cell defect","Inherited complement deficiency","SCID","Primary immune disorder","Primary immunodeficiency","A-gammaglobulinaemia","Agammaglobulinaemia","hypo-gammaglobulinaemia","hypogammaglobulinemia","immune deficiency syndromes","Severe combined immunodeficiency","Congenital neutopenia","Familial haemophagocytic lymphohistiocytic disorders","Familial hemophagocytic lymphohistiocytic disorders","PID","Sepsis","Disseminated non-tuberculous mycobacterial infection","R15"],"stats":{"number_of_genes":395,"number_of_strs":0,"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."}]}}]}