{"count":4,"next":null,"previous":null,"results":[{"gene_data":{"alias":["FBLN"],"biotype":"protein_coding","hgnc_id":"HGNC:3600","gene_name":"fibulin 1","omim_gene":["135820"],"alias_name":null,"gene_symbol":"FBLN1","hgnc_symbol":"FBLN1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"22:45898118-45997015","ensembl_id":"ENSG00000077942"}},"GRch38":{"90":{"location":"22:45502238-45601135","ensembl_id":"ENSG00000077942"}}},"hgnc_date_symbol_changed":"1994-02-08"},"entity_type":"gene","entity_name":"FBLN1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Emory Genetics Laboratory"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":101,"hash_id":"553f9598bb5a1616e5ed45ae","name":"VACTERL-like phenotypes","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Limb disorders","status":"public","version":"1.24","version_created":"2019-06-20T15:15:18.221805Z","relevant_disorders":[],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["FBLN"],"biotype":"protein_coding","hgnc_id":"HGNC:3600","gene_name":"fibulin 1","omim_gene":["135820"],"alias_name":null,"gene_symbol":"FBLN1","hgnc_symbol":"FBLN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:45898118-45997015","ensembl_id":"ENSG00000077942"}},"GRch38":{"90":{"location":"22:45502238-45601135","ensembl_id":"ENSG00000077942"}}},"hgnc_date_symbol_changed":"1994-02-08"},"entity_type":"gene","entity_name":"FBLN1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["11836357","24084572"],"evidence":["Expert Review Amber","London South East RGC GSTT","Viapath"],"phenotypes":["Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180","SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","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":["FBLN"],"biotype":"protein_coding","hgnc_id":"HGNC:3600","gene_name":"fibulin 1","omim_gene":["135820"],"alias_name":null,"gene_symbol":"FBLN1","hgnc_symbol":"FBLN1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"22:45898118-45997015","ensembl_id":"ENSG00000077942"}},"GRch38":{"90":{"location":"22:45502238-45601135","ensembl_id":"ENSG00000077942"}}},"hgnc_date_symbol_changed":"1994-02-08"},"entity_type":"gene","entity_name":"FBLN1","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":["24084572"],"evidence":["NHS GMS","Expert Review Amber","Expert list","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory","UKGTN",""],"phenotypes":["Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses 608180"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","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":["FBLN"],"biotype":"protein_coding","hgnc_id":"HGNC:3600","gene_name":"fibulin 1","omim_gene":["135820"],"alias_name":null,"gene_symbol":"FBLN1","hgnc_symbol":"FBLN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:45898118-45997015","ensembl_id":"ENSG00000077942"}},"GRch38":{"90":{"location":"22:45502238-45601135","ensembl_id":"ENSG00000077942"}}},"hgnc_date_symbol_changed":"1994-02-08"},"entity_type":"gene","entity_name":"FBLN1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":[],"evidence":["DD-Gene2Phenotype","Expert Review Red"],"phenotypes":["SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES 608180"],"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"}]}}]}